Shay Tzur's Publications List

The Genomic History of the Bronze Age Southern Levant.

2021-01-15T08:56:12Z

We report genome-wide DNA data for 73 individuals from five archaeological sites across the Bronze and Iron Ages Southern Levant. These individuals, who share the "Canaanite" material culture, can be modeled as descending from two sources: (1) earlier local Neolithic populations and (2) populations related to the Chalcolithic Zagros or the Bronze Age Caucasus. The non-local contribution increased ...

Lily Agranat-Tamir, Shamam Waldman, Mario A S Martin, David Gokhman, Nadav Mishol, Tzilla Eshel, Olivia Cheronet, Nadin Rohland, Swapan Mallick, Nicole Adamski, Ann Marie Lawson, Matthew Mah, Megan Michel, Jonas Oppenheimer, Kristin Stewardson, Francesca Candilio, Denise Keating, Beatriz Gamarra, Shay Tzur, Mario Novak, Rachel Kalisher, Shlomit Bechar, Vered Eshed, Douglas J Kennett, Marina Faerman, Naama Yahalom-Mack, Janet M Monge, Yehuda Govrin, Yigal Erel, Benjamin Yakir, Ron Pinhasi, Shai Carmi, Israel Finkelstein, Liran Carmel, David Reich (2020) Cell 181: 5 1146-1157.e11

Mutations in do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.

2021-01-15T08:56:12Z

The etiology of calcium-oxalate kidney stone formation remains elusive. Biallelic mutations in are responsible for primary hyperoxaluria type 3 and result in oxalate overproduction and kidney stone disease. Our previous study showed that carriers of mutations have elevated urinary levels of oxalate precursors. In this study we explored the possibility that mutations in confer a dominant phenoty...

Roi Bar, Efrat Ben-Shalom, Mordechai Duvdevani, Ruth Belostotsky, Martin R Pollak, David B Mount, Ruth Bar-Gal, Ehud Gnessin, Shay Tzur, Gary C Curhan, Yaacov Frishberg (2020) The Journal of urology :

Germline variant in is a novel candidate gene in familial pheochromocytoma.

2021-01-15T08:56:12Z

Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with four PCC-affected patients in two consecutive generations and identified a potential novel candidate p...

Yael Laitman, Shay Tzur, Ruben Attai, Amit Tirosh, Eitan Friedman (2020) Genetics research 102:

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

2021-01-15T08:56:12Z

Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical for acetylation of histone H4 at lysine 16 (H4K16), an evolutionarily conserved epigenetic mark. It is unclear what roles KAT8 plays in cerebral development and human disease. H...

Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E Schnur, Catherine Breen, Renske Oegema, Marjan Mm Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A Hills, Elles Mj Boon, Lina Basel-Salmon, Osnat Konen, Hadassa Goldberg-Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T Cho, Maria Scarano, G Bradley Schaefer, Susan S Brooks, Susan Starling Hughes, K L I van Gassen, Johanna M van Hagen, Tej K Pandita, Pankaj B Agrawal, Philippe M Campeau, Xiang-Jiao Yang (2020) The Journal of clinical investigation 130: 3 1431-1445

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

2021-01-15T08:56:12Z

MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression. Heterozygous loss-of-function point mutations of miRNA genes are associated with several human congenital disorders, but neomorphic (gain-of-new-function) mutations in miRNAs due to nucleotide substitutions have not been reported. Here we describe a neomorphic seed region mutation in the chondrocyte-specific, super-enhancer...

Giedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, Fatemeh Mirzamohammadi, Zvi U Borochowitz, Ugur M Ayturk, Shay Tzur, Eva Horemuzova, Anna Lindstrand, Mary Ann Weis, Gintautas Grigelionis, Anna Hammarsjö, Elin Marsk, Ann Nordgren, Magnus Nordenskjöld, David R Eyre, Matthew L Warman, Gen Nishimura, Phillip A Sharp, Tatsuya Kobayashi (2019) Nature medicine 25: 4 583-590

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

2021-01-15T08:56:12Z

Primary deficiency of coenzyme Q10 (CoQ10 ubiquinone), is classified as a mitochondrial respiratory chain disorder with phenotypic variability. The clinical manifestation may involve one or multiple tissue with variable severity and presentation may range from infancy to late onset. ADCK3 gene mutations are responsible for the most frequent form of hereditary CoQ10 deficiency (Q10 deficiency-4 OMI...

Adel Shalata, Michael Edery, Clair Habib, Jacob Genizi, Mohammad Mahroum, Lama Khalaily, Nurit Assaf, Idan Segal, Hoda Abed El Rahim, Hana Shapira, Danielle Urian, Shay Tzur, Liza Douiev, Ann Saada (2019) Neurochemical research 44: 10 2372-2384

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.

2021-01-15T08:56:12Z

Herein, we describe two members of one family who presented with recurrent episodes of hepatic failure, cerebellar ataxia, peripheral neuropathy, and short stature. Liver transplantation was considered. Whole-exome sequencing (Trio) revealed a synonymous variant in exon 4 of SCYL1:c.459C>T p. (Gly153Gly), which did not appear to affect the protein sequence. Computational prediction analysis sugges...

Adi Shohet, Lior Cohen, Danielle Haguel, Yael Mozer, Noam Shomron, Shay Tzur, Lily Bazak, Lina Basel Salmon, Irit Krause (2019) European journal of human genetics : EJHG 27: 2 263-268

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

2021-01-15T08:56:12Z

Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown.

Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen W Scherer, Shay Tzur, Yigal Dror (2019) Journal of medical genetics 56: 5 340-346

Big data analysis of human mitochondrial DNA substitution models: a regression approach.

2021-01-15T08:56:12Z

We study Phylotree, a comprehensive representation of the phylogeny of global human mitochondrial DNA (mtDNA) variations, to better understand the mtDNA substitution mechanism and its most influential factors. We consider a substitution model, where a set of genetic features may predict the rate at which mtDNA substitutions occur. To find an appropriate model, an exhaustive analysis on the effect ...

Keren Levinstein Hallak, Shay Tzur, Saharon Rosset (2018) BMC genomics 19: 1

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.

2021-01-15T08:56:12Z

Inheritance of apolipoprotein L1 gene (APOL1) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1-associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk alleles. Nearby loci are also a...

Karl L Skorecki, Jessica H Lee, Carl D Langefeld, Saharon Rosset, Shay Tzur, Walter G Wasser, Revital Shemer, Gregory A Hawkins, Jasmin Divers, Rulan S Parekh, Man Li, Matthew G Sampson, Matthias Kretzler, Martin R Pollak, Shrijal Shah, Daniel Blackler, Brendan Nichols, Michael Wilmot, Seth L Alper, Barry I Freedman, David J Friedman (2018) Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 33: 2 323-330

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.

2017-12-24T21:54:30Z

Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is associated with different groups of genes, including those encoding proteins involved in centriole and cilium biogenesis. Exome sequencing revealed a homozygous nonsense mutation (c.304_305delGA [p. D102*]) in POC5, encoding the Proteome Of Centriole 5, in a patient with retinitis pigmentosa, short stature, micro...

Monika Weisz Hubshman, Sanne Broekman, Erwin van Wijk, Frans Cremers, Alaa Abu-Diab, Khateb Samer, Shay Tzur, Irena Lagovsky, Pola Smirin-Yosef, Dror Sharon, Lonneke Haer-Wigman, Eyal Banin, Lina Basel-Vanagaite, Erik de Vrieze (2017) Human molecular genetics :

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

2018-02-13T12:58:07Z

Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder with a poor developmental prognosis. Although it has been associated with mutations in a number of genes, the fact that there is a large proportion of patients who remain undiagnosed suggests that there are many more still-unknown genetic causes of EOEE. Achieving a genetic diagnosis is important for understanding the biol...

Naama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, Lily Bazak, Monika Weisz Hubshman, Nesia Kropach, Oded Gilad, Oded Scheuerman, Yahav Dory, Dror Kraus, Shay Tzur, Nurit Magal, Yael Kilim, Vered Shkalim Zemer, Lina Basel-Salmon (2017) European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society :

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome.

2017-12-24T21:54:30Z

Approximately 300,000 men around the globe self-identify as Ashkenazi Levites, of whom two thirds were previously shown to descend from a single male. The paucity of whole Y-chromosome sequences precluded conclusive identification of this ancestor's age, geographic origin and migration patterns. Here, we report the variation of 486 Y-chromosomes within the Ashkenazi and non-Ashkenazi Levite R1a cl...

Doron M Behar, Lauri Saag, Monika Karmin, Meir G Gover, Jeffrey D Wexler, Luisa Fernanda Sanchez, Elliott Greenspan, Alena Kushniarevich, Oleg Davydenko, Hovhannes Sahakyan, Levon Yepiskoposyan, Alessio Boattini, Stefania Sarno, Luca Pagani, Shai Carmi, Shay Tzur, Ene Metspalu, Concetta Bormans, Karl Skorecki, Mait Metspalu, Siiri Rootsi, Richard Villems (2017) Scientific reports 7: 1

Evaluating the evidence available for associating genes of unknown significance (GUS) with disease phenotypes: Review of 100 studies.

2017-10-14T19:07:57Z

A large portion of unresolved exome-analysis cases in rare disease research are explained by mutations in genes of unknown significance (GUS). While various types of evidence are available for most human genes (biochemical function, protein interaction, expression, animal model, pathways, and gene family), it is unclear how often these can be used as indirect supportive data for the establishment ...

S. Tzur, N. Mizrahi, E. Feldman, R. Attali (2017) ASHG 2017 PgmNr 1174

mtDNA as a tool for maternal ancestry discovery [in hebrew] . פרק 2: דנ"א מיטוכונדרי ככלי בבירור מוצא אימהי

2017-12-24T22:11:30Z

(2017) בירורי יהדות לאור מחקרים גנטיים מאת: ליטקה , בארנבאום

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy

2017-03-02T13:11:24Z

Background. Inheritance of apolipoprotein L1 gene (APOL1) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1-associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk alleles. Nearby loc...

Karl L. Skorecki Jessica H. Lee Carl D. Langefeld Saharon Rosset Shay Tzur Walter G. Wasser Revital Shemer Gregory A. Hawkins Jasmin Divers Rulan S. Parekh Man Li Matthew G. Sampson Matthias Kretzler Martin R. Pollak Shrijal Shah Daniel Blackler Brendan Nichols Michael Wilmot Seth L. Alper Barry I. Freedman David J. Friedman (2017) Nephrol Dial Transplant :

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

2017-02-14T08:31:47Z

We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.15...

Andreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris Krainer, Lukas A Huber, Michael W Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer-Shafir, Rivka Sukenik-Halevy, Tania Zehavi, Annick Raas-Rothschild, Cungui Mao, Thomas Müller (2017) Human mutation :

Strictly conserved tri-nucleotide motif "CAT" is associated with TAS DNA protein-binding sites in human mitochondrial DNA control region.

2021-01-15T08:56:12Z

The mitochondrial DNA (mtDNA) control region is a highly variable segment that contains functional elements that control mtDNA transcription and replication. By analysis of the polymorphic nucleotide spectrum of that segment, we aimed to identify the most conserved sites that should be associated with these elements. For that aim, we analyzed 50 033 human mtDNA control region sequences (mtDNA po...

Shay Tzur, Saharon Rosset (2017) Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 28: 2 250-253

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.

2017-10-30T15:55:13Z

NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcem...

Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen (2017) The Journal of clinical endocrinology and metabolism :

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

2017-06-21T14:45:19Z

Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions.

Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, Lily Bazak, Bella Davidov, Eyal Reinstein, Shay Tzur, Doron Behar, Pola Smirin-Yosef, Mali Salmon-Divon, Amit Gross, Mordechai Shohat, Lina Basel-Vanagaite (2017) Harefuah 156: 4 212-216

Insights from applying ClinGen framework in evaluating the clinical validity of 30 published studies of gene-disease relationship of monogenic disorders.

2017-10-14T19:05:44Z

The Clinical Genome Resource (ClinGen) has recently developed a framework for evaluating the clinical validity of gene-disease relationship in monogenic disorders. Using this semi-quantitative measurement framework, a scientist can evaluate the relevant genetic and experimental evidence for supporting a certain gene-disease relationship, and to calculate the strength of evidence based on qualitati...

R. Attali, O. Farchy, A. Rafaeli, S. Tzur (2017) ASHG 2017 PgmNr 1173

A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis.

2016-12-31T18:53:30Z

Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty.

Pola Smirin-Yosef, Nehama Zuckerman-Levin, Shay Tzur, Yaron Granot, Lior Cohen, Juliane Sachsenweger, Guntram Borck, Irina Lagovsky, Mali Salmon-Divon, Lisa Wiesmüller, Lina Basel-Vanagaite (2016) The Journal of clinical endocrinology and metabolism :

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

2016-12-31T18:53:30Z

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family...

Eyal Reinstein, Shay Tzur, Rony Cohen, Concetta Bormans, Doron M Behar (2016) European journal of human genetics : EJHG 24: 11 1635-1638

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

2016-12-31T18:53:30Z

Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial inhe...

Lior Cohen, Shay Tzur, Nitza Goldenberg-Cohen, Concetta Bormans, Doron M Behar, Eyal Reinstein (2016) Genetics research 98:

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

2016-06-03T15:33:32Z

Whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. Though most studies are performed in order to establish diagnoses in individuals with rare and clinically unrecognizable disorders, due to the constantly decreasing costs and commercial availability, whole-exome sequencing has gradually become the initial tool to study patients with clinically re...

Eyal Reinstein, Shay Tzur, Concetta Bormans, Doron M Behar (2016) Genetics research 98:

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

2016-12-31T18:53:30Z

In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied whole-exome sequencing to members of a non-consanguineous family affected by a previously unreported congenital dilated cardiomyopathy syndrome nec...

Eyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas-Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xose S Puente, Doron M Behar, Carlos Lopez-Otın (2016) European journal of human genetics : EJHG 24: 12 1792-1796

Strictly conserved tri-nucleotide motif “CAT” is associated with TAS DNA protein-binding sites in human mitochondrial DNA control region

2015-12-29T20:56:22Z

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

2015-03-21T20:47:29Z

Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and pal...

Lina Basel-Vanagaite, Pola Smirin-Yosef, Jenna Lee Essakow, Shay Tzur, Irina Lagovsky, Idit Maya, Metsada Pasmanik-Chor, Adva Yeheskel, Osnat Konen, Naama Orenstein, Monika Weisz Hubshman, Valerie Drasinover, Nurit Magal, Gaby Peretz Amit, Yael Zalzstein, Avraham Zeharia, Mordechai Shohat, Rachel Straussberg, Didier Monté, Mali Salmon-Divon, Doron M Behar (2015) Human genetics :

Mutations in TAX1BP3 cause Dilated Cardiomyopathy with Septo-Optic Dysplasia.

2015-02-04T12:27:39Z

We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo-optic dysplasia. Genetic analysis revealed a homozygous missense mutation in TAX1BP3, which encodes a small PDZ-containing protein implicated in regulation of the Wnt/β-catenin signaling pathway, as the causative mutation. The mutation affects a conserved residue located at the...

Eyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, Hadas Stiebel-Kalish, Shay Tzur, Allen L Pimienta, Lily Bazak, Tuvia Bengal, Lior Cohen, Dan D Gaton, Concetta Bormans, Meytal Landau, Ran Kornowski, Mordechai Shohat, Doron M Behar (2015) Human mutation :

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

2015-01-22T19:39:34Z

Lissencephaly comprises a heterogeneous group of developmental brain disorders of varying severity, involving abnormal cortical gyration. We studied a highly consanguineous Israeli Moslem family with a lethal form of autosomal recessive lissencephaly with cerebellar hypoplasia (LCH). Using microarray-based homozygosity mapping in the reported family, combined with whole exome sequencing in one aff...

Daniella Magen, Ayala Ofir, Liron Berger, Dorit Goldsher, Ayelet Eran, Nassser Katib, Yousif Nijem, Euvgeni Vlodavsky, Shay Zur, Doron M Behar, Yakov Fellig, Hanna Mandel (2015) Human genetics :

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.

2021-01-15T08:56:12Z

Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of these genes is NCF1, encoding the p47(phox) protein. A group of 39 patients, 14 of whom are of Kavkazi Jewish descent, was investigated for a founder effect for the mutation c.579G>A (p.Trp193Ter) in NCF1. We analyzed various genetic marker...

Martin de Boer, Shay Tzur, Karin van Leeuwen, Paula C D Dencher, Karl Skorecki, Baruch Wolach, Ronit Gavrieli, Ivane Nasidze, Mark Stoneking, Michael W T Tanck, Dirk Roos (2015) Blood cells, molecules & diseases 55: 4 320-327

Lethal neonatal rigidity and multifocal seizure syndrome - Report of another family with a BRAT1 mutation.

2015-01-22T19:38:54Z

We describe two siblings born to consanguineous Arab-Muslim parents who presented in early infancy with myoclonic seizures, hypertonia and contractures, arrested head growth, inability to swallow, and bouts of apnea-bradycardia, culminating in cardiac arrest and death. Whole-genome sequencing yielded a c.1173delG mutation in the BRAT1 gene. Three recent reports identified mutations in the same ge...

Rachel Straussberg, Esther Ganelin-Cohen, Hadassah Goldberg-Stern, Shay Tzur, Doron M Behar, Pola Smirin-Yosef, Mali Salmon-Divon, Lina Basel-Vanagaite (2014) European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society :

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency.

2014-10-07T21:13:26Z

Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction. The phenotypic spectrum ranges from absence of pubertal maturation to early menopause. Genes involved in essential steps in chromosome synapsis and recombination during meiosis, such as synaptonemal complex central element 1 (SYCE1), have been shown to cause POI in animal models. We describe for th...

Liat de Vries, Doron M Behar, Pola Smirin-Yosef, Irina Lagovsky, Shay Tzur, Lina Basel-Vanagaite (2014) The Journal of clinical endocrinology and metabolism 99: 10 E2129-E2132

Open DNA era and its social impacts [in hebrew עידן הדנ"א החופשי והשלכותיו החברתיות]

2015-01-22T19:45:47Z

אחים למחצה יוכלו לגלות זה את זה, מאומצים וילדים חד הוריים יכולים לגלות את הוריהם, וזו רק ההתחלה. ליכולת לבצע בדיקות גנטיות יהיו השלכות חברתיות ואתיות, בנוסף להשפעות הבריאותיות עידן הדנ"א החופשי הגיע ויש לו משמעויות הרות...

Shay Tzur (2014) http://www.hayadan.org.il/

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews.

2014-10-07T21:13:26Z

The origin and history of the Ashkenazi Jewish population have long been of great interest, and advances in high-throughput genetic analysis have recently provided a new approach for investigating these topics. We and others have argued on the basis of genome-wide data that the Ashkenazi Jewish population derives its ancestry from a combination of sources tracing to both Europe and the Middle East...

Doron M Behar, Mait Metspalu, Yael Baran, Naama M Kopelman, Bayazit Yunusbayev, Ariella Gladstein, Shay Tzur, Hovhannes Sahakyan, Ardeshir Bahmanimehr, Levon Yepiskoposyan, Kristina Tambets, Elza K Khusnutdinova, Alena Kushniarevich, Oleg Balanovsky, Elena Balanovsky, Lejla Kovacevic, Damir Marjanovic, Evelin Mihailov, Anastasia Kouvatsi, Costas Triantaphyllidis, Roy J King, Ornella Semino, Antonio Torroni, Michael F Hammer, Ene Metspalu, Karl Skorecki, Saharon Rosset, Eran Halperin, Richard Villems, Noah A Rosenberg (2013) Human biology 85: 6 859-900

A Population Genetics Approach to End Stage Kidney Disease Susceptibility

2013-05-05T18:26:47Z

Clinical epidemiological observations in the United States have shown a consistent disparity between populations of African and European ancestry in the risk for chronic kidney disease. These observations strongly suggest the presence of a responsible genetic locus. Using an admixture mapping approach, DNA variants in the gene MYH9 located within a genomic region on chromosome 22 were identified, ...

Shay Tzur, Karl Skorecki (2013)

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.

2013-11-26T05:44:44Z

Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure, characterized by decreased absorption of dietary fat, greasy and voluminous stools but apparent normal development and an overall good state of health. While considered to be an autosomal recessive state affecting a few dozens of individuals world-wide and involving the PNLIP gene, no causative mu...

Doron M Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Nurit Magal, Tal Eidlitz-Markus, Yishay Haimi-Cohen, Galit Sarig, Concetta Bormans, Mordechai Shohat, Avraham Zeharia (2013) Journal of lipid research :

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites.

2014-01-26T21:57:07Z

Previous Y-chromosome studies have demonstrated that Ashkenazi Levites, members of a paternally inherited Jewish priestly caste, display a distinctive founder event within R1a, the most prevalent Y-chromosome haplogroup in Eastern Europe. Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our surve...

Siiri Rootsi, Doron M Behar, Mari Järve, Alice A Lin, Natalie M Myres, Ben Passarelli, G David Poznik, Shay Tzur, Hovhannes Sahakyan, Ajai Kumar Pathak, Saharon Rosset, Mait Metspalu, Viola Grugni, Ornella Semino, Ene Metspalu, Carlos D Bustamante, Karl Skorecki, Richard Villems, Toomas Kivisild, Peter A Underhill (2013) Nature communications 4:

A genomic history of the Jewish people

2013-05-05T18:42:40Z

Karl Skorecki, Yoseph Skorecki, Shay Tzur (2013) Shemot 21: 1 1-15

Adaptation of pelage color and pigment variations in Israeli subterranean blind mole rats, Spalax ehrenbergi [corrected].

2021-01-15T08:56:12Z

Concealing coloration in rodents is well established. However, only a few studies examined how soil color, pelage color, hair-melanin content, and genetics (i.e., the causal chain) synergize to configure it. This study investigates the causal chain of dorsal coloration in Israeli subterranean blind mole rats, Spalax ehrenbergi.

Natarajan Singaravelan, Shmuel Raz, Shay Tzur, Shirli Belifante, Tomas Pavlicek, Avigdor Beiles, Shosuke Ito, Kazumasa Wakamatsu, Eviatar Nevo (2013) PloS one 8: 7

High population frequencies of APOL1 risk variants are associated with increased prevalence of non-diabetic chronic kidney disease in the Igbo people from south-eastern Nigeria.

2021-01-15T08:56:12Z

Continental Africa is facing an epidemic of chronic kidney disease (CKD). APOL1 risk variants have been shown to be strongly associated with an increased risk for non-diabetic kidney disease including HIV nephropathy, primary non-monogenic focal and segmental glomerulosclerosis, and hypertension-attributed nephropathy among African ancestry populations in the USA. The world's highest frequencies o...

Ifeoma I Ulasi, Shay Tzur, Walter G Wasser, Revital Shemer, Etty Kruzel, Elena Feigin, Chinwuba K Ijoma, Obinna D Onodugo, Julius U Okoye, Ejikeme B Arodiwe, Ngozi A Ifebunandu, Chinwe J Chukwuka, Cajetan C Onyedum, Uchenna N Ijoma, Emmanuel Nna, Macaulay Onuigbo, Saharon Rosset, Karl Skorecki (2013) Nephron. Clinical practice 123: 1-2 123-128

Possible incipient sympatric ecological speciation in blind mole rats (Spalax).

2021-01-15T08:56:12Z

Sympatric speciation has been controversial since it was first proposed as a mode of speciation. Subterranean blind mole rats (Spalacidae) are considered to speciate allopatrically or peripatrically. Here, we report a possible incipient sympatric adaptive ecological speciation in Spalax galili (2n = 52). The study microsite (0.04 km(2)) is sharply subdivided geologically, edaphically, and ecologic...

Yarin Hadid, Shay Tzur, Tomáš Pavlícek, Radim Šumbera, Jan Šklíba, Matěj Lövy, Ori Fragman-Sapir, Avigdor Beiles, Ran Arieli, Shmuel Raz, Eviatar Nevo (2013) Proceedings of the National Academy of Sciences of the United States of America 110: 7 2587-2592

APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease.

2012-02-26T14:02:07Z

BACKGROUND: The APOL1 G1 and G2 genetic variants make a major contribution to the African ancestry risk for a number of common forms of non-diabetic end-stage kidney disease (ESKD). We sought to clarify the relationship of APOL1 variants with age of dialysis initiation and dialysis vintage (defined by the time between dialysis initiation and sample collection) in African and Hispanic Americans, di...

Shay Tzur, Saharon Rosset, Karl Skorecki, Walter G Wasser (2012) Nephrol Dial Transplant :

Population genetics of chronic kidney disease: The evolving story of APOL1.

2012-09-03T20:27:00Z

Advances in human genome sequencing and generation of public databases of genomic diversity enable nephrologists to re-examine the genetics of common, complex kidney diseases. Non-diabetic kidney diseases prevalent in African ancestry populations and the allelic variation described in chromosome 22q12.3 is one such illustrative example. Newly available genomic database information enabled research...

Walter G Wasser, Shay Tzur, Dawit Wolday, Dwomoa Adu, Donald Baumstein, Saharon Rosset, Karl Skorecki (2012) J Nephrol :

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.

2012-11-10T18:07:34Z

BACKGROUND: A recent meta-analysis described a variant (p.Ile2984Val) in the cubilin gene (CUBN) that is associated with levels of albuminuria in the general population and in diabetics. METHODS: We implemented a Linkage Disequilibrium (LD) search with data from the 1000 Genomes Project, on African and European population genomic sequences. RESULTS: We found that the p.Ile2984Val variation is ...

Shay Tzur, Walter G Wasser, Saharon Rosset, Karl Skorecki (2012) BMC Nephrol 13: 1

Genetic Arms Race in Africa [in hebrew --- מירוץ חימוש גנטי באפריקה]

2011-02-12T21:56:07Z

Shay Tzur, Karl Skorecki (2011) BioInform, ver 6, January 2011

Absence of APOL1 Risk Variants Protects against HIV-Associated Nephropathy in the Ethiopian Population.

2011-10-07T08:07:11Z

Background: Susceptibility to end-stage kidney disease (ESKD) among HIV-infected Americans of African ancestral heritage has been attributed to APOL1 genetic variation. We determined the frequency of the APOL1 G1 and G2 risk variants together with the prevalence of HIV-associated nephropathy (HIVAN) among individuals of Ethiopian ancestry to determine whether the kidney disease genetic risk is Pan...

Doron M Behar, Eynat Kedem, Saharon Rosset, Yonas Haileselassie, Shay Tzur, Zipi Kra-Oz, Walter G Wasser, Yotam Shenhar, Eduardo Shahar, Gamal Hassoun, Carcom Maor, Dawit Wolday, Shimon Pollack, Karl Skorecki (2011) Am J Nephrol 34: 5 452-459

The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.

2011-05-08T18:31:54Z

Many rare kidney disorders exhibit a monogenic, Mendelian pattern of inheritance. Population-based genetic studies have identified many genetic variants associated with an increased risk of developing common kidney diseases. Strongly associated variants have potential clinical uses as predictive markers and may advance our understanding of disease pathogenesis. These principles are elegantly illus...

Saharon Rosset, Shay Tzur, Doron M Behar, Walter G Wasser, Karl Skorecki (2011) Nat Rev Nephrol :

APOL1 Risk Variants Predict Histopathology and Progression to ESRD in HIV-Related Kidney Disease.

2011-12-12T18:29:18Z

With earlier institution of antiretroviral therapy, kidney diseases other than HIV-associated nephropathy (HIVAN) predominate in HIV-infected persons. Outcomes for these diseases are typically worse among those infected with HIV, but the reasons for this are not clear. Here, we examined the role of APOL1 risk variants in predicting renal histopathology and progression to ESRD in 98 HIV-infected Af...

Derek M Fine, Walter G Wasser, Michelle M Estrella, Mohamed G Atta, Michael Kuperman, Revital Shemer, Arun Rajasekaran, Shay Tzur, Lorraine C Racusen, Karl Skorecki (2011) J Am Soc Nephrol :

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.

2011-12-12T18:30:32Z

MYH9 has been proposed as a major genetic risk locus for a spectrum of nondiabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. The ...

Shay Tzur, Saharon Rosset, Revital Shemer, Guennady Yudkovsky, Sara Selig, Ayele Tarekegn, Endashaw Bekele, Neil Bradman, Walter G Wasser, Doron M Behar, Karl Skorecki (2010) Hum Genet :

ANCIENT mtDNA SEQUENCES AND RADIOCARBON DATING OF HUMAN BONES FROM THE CHALCOLITHIC CAVES OF WADI EL‐MAKKUKH

2011-08-08T17:01:57Z

DNA from fossil human bones can provide valuable information for understanding intra‐ and inter‐population relationships. Using the DNA preserved inside crystal aggregates from human fossil bones containing relatively large amounts of collagen, we demonstrate the presence of reproducible mtDNA control region sequences. Radiocarbon dates from each bone show that the burial caves were used for ...

Salamon, M., Tzur, S., Arensburg, B., Zias, J., Nagar, Y., Weiner, S. and Boaretto, E. (2010) Mediterranean Archaeology and Archaeometry 10: 2 1-14

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.

2010-02-17T20:38:07Z

Recent studies identified MYH9 as a major susceptibility gene for common forms of non-diabetic end-stage kidney disease (ESKD). A set of African ancestry DNA sequence variants comprising the E-1 haplotype, was significantly associated with ESKD. In order to determine whether African ancestry variants are also associated with disease susceptibility in admixed populations with differing genomic back...

Doron M Behar, Saharon Rosset, Shay Tzur, Sara Selig, Guennady Yudkovsky, Sivan Bercovici, Jeffrey B Kopp, Cheryl A Winkler, George W Nelson, Walter G Wasser, Karl Skorecki (2010) Hum Mol Genet :

Odour–genes covariance within a natural population of subterranean Spalax galili blind mole rats

2009-03-31T21:02:13Z

Previous research, using habituation techniques with multiple rodent species as subjects, has demonstrated (from kin to across species) the greater perceptual similarity in the qualities of individual odours of more closely genetically related individuals ('odour–genes covariance', abbreviated 'OGC'). This predictable relationship between individual genotypes and individual odours has only been ...

SHAY TZUR , JOSEPHINE TODRANK, ANDREAS JUERGENS, EVIATAR NEVO, GIORA HETH (2009) Biological Journal of the Linnean Society 96: 3 483-490

The dawn of human matrilineal diversity.

2008-05-13T21:13:31Z

The quest to explain demographic history during the early part of human evolution has been limited because of the scarce paleoanthropological record from the Middle Stone Age. To shed light on the structure of the mitochondrial DNA (mtDNA) phylogeny at the dawn of Homo sapiens, we constructed a matrilineal tree composed of 624 complete mtDNA genomes from sub-Saharan Hg L lineages. We paid particul...

Doron M Behar, Richard Villems, Himla Soodyall, Jason Blue-Smith, Luisa Pereira, Ene Metspalu, Rosaria Scozzari, Heeran Makkan, Shay Tzur, David Comas, Jaume Bertranpetit, Lluis Quintana-Murci, Chris Tyler-Smith, R Spencer Wells, Saharon Rosset (2008) Am J Hum Genet 82: 5 1130-1140

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers.

2008-02-06T21:40:32Z

Two groups of populations with completely different lifestyles-the Pygmy hunter-gatherers and the Bantu-speaking farmers-coexist in Central Africa. We investigated the origins of these two groups and the interactions between them, by analyzing mtDNA variation in 1,404 individuals from 20 farming populations and 9 Pygmy populations from Central Africa, with the aim of shedding light on one of the m...

Quintana-Murci, Quach, Harmant, Luca, Massonnet, Patin, Sica, Mouguiama-Daouda, Comas, Tzur, Balanovsky, Kidd, van der Veen, Hombert, Gessain, Verdu, Froment, Bahuchet, Heyer, Dausset, Salas, Behar (2008) Proc Natl Acad Sci U S A :

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora.

2008-05-13T21:13:31Z

The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Levant, followed by complex demographic and migratory trajectories over the ensuing millennia which pose a serious challenge to unraveling population genetic patterns. Here we ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ances...

Doron M Behar, Ene Metspalu, Toomas Kivisild, Saharon Rosset, Shay Tzur, Yarin Hadid, Guennady Yudkovsky, Dror Rosengarten, Luisa Pereira, Antonio Amorim, Ildus Kutuev, David Gurwitz, Batsheva Bonne-Tamir, Richard Villems, Karl Skorecki (2008) PLoS ONE 3: 4

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.

2008-07-19T21:18:19Z

The biological role of the mitochondrial DNA (mtDNA) control region in mtDNA replication remains unclear. In a worldwide survey of mtDNA variation in the general population, we have identified a novel large control region deletion spanning positions 16154 to 16307 (m.16154_16307del154). The population prevalence of this deletion is low, since it was only observed in 1 out of over 120,000 mtDNA gen...

Behar, Blue-Smith, Soria-Hernanz, Tzur, Hadid, Bormans, Moen, Tyler-Smith, Quintana-Murci, Wells (2008) Hum Mutat :

Edaphic selection at a microsite on mtDNA polymorphism in blind mole rat, Spalax galili, Dalton, Israel

2007-05-14T18:05:38Z

In the area of the Upper Eastern Galilee one can find different types of soil, of sedimentary rocks (Terra rosa and Rendzina) and volcanic rock (Basalt) origins. The soils vary in their hue, chemical components and physical characters. These differences are the basis of the different kinds of vegetation observed in the sampled areas, and may cause a number of natural selective forces on variety o...

Shay Tzur (2007)

The Genographic Project public participation mitochondrial DNA database.

2021-01-15T08:56:12Z

The Genographic Project is studying the genetic signatures of ancient human migrations and creating an open-source research database. It allows members of the public to participate in a real-time anthropological genetics study by submitting personal samples for analysis and donating the genetic results to the database. We report our experience from the first 18 months of public participation in th...

Doron M Behar, Saharon Rosset, Jason Blue-Smith, Oleg Balanovsky, Shay Tzur, David Comas, R John Mitchell, Lluis Quintana-Murci, Chris Tyler-Smith, R Spencer Wells, (2007) PLoS genetics 3: 6

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event.

2021-01-15T08:56:12Z

Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the imp...

Doron M Behar, Ene Metspalu, Toomas Kivisild, Alessandro Achilli, Yarin Hadid, Shay Tzur, Luisa Pereira, Antonio Amorim, Lluis Quintana-Murci, Kari Majamaa, Corinna Herrnstadt, Neil Howell, Oleg Balanovsky, Ildus Kutuev, Andrey Pshenichnov, David Gurwitz, Batsheva Bonne-Tamir, Antonio Torroni, Richard Villems, Karl Skorecki (2006) American journal of human genetics 78: 3 487-497