Mutant cohesin in premature ovarian failure.

Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid of Stag3 are sterile, and their fetal oocytes are arrested at early prophase I, leading to oocyte depletion at 1 week of age.

[1]  Zi-jiang Chen,et al.  Genetic association studies in female reproduction: from candidate-gene approaches to genome-wide mapping. , 2013, Molecular human reproduction.

[2]  A. Losada,et al.  Cohesin, a chromatin engagement ring. , 2013, Current opinion in cell biology.

[3]  Masao Nagasaki,et al.  Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms , 2012, Nature Genetics.

[4]  Allan Jacobson,et al.  NMD: a multifaceted response to premature translational termination , 2012, Nature Reviews Molecular Cell Biology.

[5]  Gunjan Mehta,et al.  Cohesin: a guardian of genome integrity. , 2012, Biochimica et biophysica acta.

[6]  Joshua F. McMichael,et al.  The Origin and Evolution of Mutations in Acute Myeloid Leukemia , 2012, Cell.

[7]  P. Vitti,et al.  An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature. , 2012, Gene.

[8]  E. de Álava,et al.  Meiotic cohesin complexes are essential for the formation of the axial element in mice , 2012, The Journal of cell biology.

[9]  Patricia A. Hunt,et al.  Human aneuploidy: mechanisms and new insights into an age-old problem , 2012, Nature Reviews Genetics.

[10]  S. Klein,et al.  Evidence for regulated monoacylglycerol acyltransferase expression and activity in human liver[S] , 2012, Journal of Lipid Research.

[11]  V. Chalifa-Caspi,et al.  Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure , 2012, PloS one.

[12]  Joshua F. McMichael,et al.  Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing , 2011, Nature.

[13]  Hui Zheng,et al.  Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development , 2011, Development.

[14]  K. Nasmyth.  Cohesin: a catenase with separate entry and exit gates? , 2011, Nature Cell Biology.

[15]  Hongtao Yu,et al.  Mutational Inactivation of STAG2 Causes Aneuploidy in Human Cancer , 2011, Science.

[16]  E. de Álava,et al.  The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility , 2011, The EMBO journal.

[17]  A. Whittemore,et al.  Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer , 2011, International journal of cancer.

[18]  H. Kurahashi,et al.  A rare synaptonemal complex protein 3 gene variant in unexplained female infertility. , 2011, Molecular human reproduction.

[19]  A. Bardhan.  Many functions of the meiotic cohesin , 2010, Chromosome Research.

[20]  Hiroshi Tanaka,et al.  MUC12 mRNA expression is an independent marker of prognosis in stage II and stage III colorectal cancer , 2010, International journal of cancer.

[21]  L. Persani,et al.  Genes involved in human premature ovarian failure. , 2010, Journal of molecular endocrinology.

[22]  A. Shelling.  Premature ovarian failure. , 2010, Reproduction.

[23]  L. Hyslop,et al.  Age-Related Meiotic Segregation Errors in Mammalian Oocytes Are Preceded by Depletion of Cohesin and Sgo2 , 2010, Current Biology.

[24]  M. Lampson,et al.  Evidence that Weakened Centromere Cohesion Is a Leading Cause of Age-Related Aneuploidy in Oocytes , 2010, Current Biology.

[25]  J. Barbero,et al.  Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes. , 2010, Human reproduction.

[26]  G. Tachdjian,et al.  Genome-wide association study and premature ovarian failure. , 2010, Annales d'endocrinologie.

[27]  Alfonso Valencia,et al.  Mutated genes, pathways and processes in tumours , 2010, EMBO reports.

[28]  Michael Griswold,et al.  Global Gene Expression in the Human Fetal Testis and Ovary1 , 2009, Biology of reproduction.

[29]  C. Fernández,et al.  Baseline expression profile of meiotic-specific genes in healthy fertile males. , 2009, Fertility and sterility.

[30]  P. Touraine,et al.  Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. , 2009, European journal of endocrinology.

[31]  H. Kurahashi,et al.  Mutations of the SYCP3 gene in women with recurrent pregnancy loss. , 2009, American journal of human genetics.

[32]  Martin M Matzuk,et al.  The biology of infertility: research advances and clinical challenges , 2008, Nature Medicine.

[33]  Luis E. Vázquez-Quiñones,et al.  Shugoshin-2 is essential for the completion of meiosis but not for mitotic cell division in mice. , 2008, Genes & development.

[34]  V. Gouyer,et al.  Architecture of the large membrane-bound mucins. , 2008, Gene.

[35]  G. Parmigiani,et al.  Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers , 2008, Proceedings of the National Academy of Sciences.

[36]  C. Bishop,et al.  Generation of rat mutants using a coat color-tagged Sleeping Beauty transposon system , 2007, Mammalian Genome.

[37]  W. Swanson,et al.  Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution. , 2006, American journal of human genetics.

[38]  I G Campbell,et al.  ST7-mediated suppression of tumorigenicity of prostate cancer cells is characterized by remodeling of the extracellular matrix , 2006, Oncogene.

[39]  E. Revenkova,et al.  SMC1β-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction , 2005, Nature Genetics.

[40]  M. McKay,et al.  Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis. , 2005, Developmental cell.

[41]  G. Felsenfeld,et al.  The 5'-HS4 chicken beta-globin insulator is a CTCF-dependent nuclear matrix-associated element. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[42]  D. Lamb,et al.  Azoospermia in patients heterozygous for a mutation in SYCP3 , 2003, The Lancet.

[43]  M. Seto,et al.  Mutational analysis of the ST7 gene in human myeloid tumor cell lines. , 2003, Oncology reports.

[44]  J. Mccormick,et al.  ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways. , 2003, Biochemistry.

[45]  R. Taub,et al.  Identification of Acyl Coenzyme A:Monoacylglycerol Acyltransferase 3, an Intestinal Specific Enzyme Implicated in Dietary Fat Absorption* , 2003, The Journal of Biological Chemistry.

[46]  Menghong Sun,et al.  An LOH and mutational investigation of the ST7 gene locus in human esophageal carcinoma , 2003, Oncogene.

[47]  D. Sidransky,et al.  Absence of ST7 gene alterations in human cancer. , 2002, Clinical cancer research : an official journal of the American Association for Cancer Research.

[48]  David Baltimore,et al.  Germline Transmission and Tissue-Specific Expression of Transgenes Delivered by Lentiviral Vectors , 2002, Science.

[49]  I. Campbell,et al.  Mutation of the ST7 tumor suppressor gene on 7q31.1 is rare in breast, ovarian and colorectal cancers , 2001, Nature Genetics.

[50]  E. Green,et al.  Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31 , 2001, Nature Genetics.

[51]  S. Keeney,et al.  Recombinational DNA double-strand breaks in mice precede synapsis , 2001, Nature Genetics.

[52]  C. Martínez-A,et al.  STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3‐related genes flanking the Williams‐Beuren syndrome deletion , 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[53]  D. Garbers,et al.  Chromosome localization of the mouse zonadhesin gene and the human zonadhesin gene (ZAN). , 1997, Genomics.

[54]  A. Monaghan,et al.  A cell‐specific enhancer far upstream of the mouse tyrosinase gene confers high level and copy number‐related expression in transgenic mice. , 1994, The EMBO journal.

[55]  M. Lieberman,et al.  Coinjection strategy for visual identification of transgenic mice , 1991, Transgenic Research.

[56]  H. Peters,et al.  The development of the mouse ovary from birth to maturity. , 1969, Acta endocrinologica.

[57]  A. H. Dinsmore,et al.  New England , 1894, Letters from America.

[58]  J. Zenklusen,et al.  Localization and characterization of ST7 in cancer , 2010, Journal of Cancer Research and Clinical Oncology.

[59]  F. Matsuda,et al.  Genetic investigation of four meiotic genes in women with premature ovarian failure. , 2008, European journal of endocrinology.