publication . Article . 2013

a nanos3 mutation linked to protein degradation causes premature ovarian insufficiency

X Wu; B Wang; Z Dong; S Zhou; Z Liu; G Shi; Y Cao; Y Xu;
Open Access
  • Published: 01 Oct 2013 Journal: Cell Death & Disease, volume 4, pages e825-e825 (eissn: 2041-4889, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
Primary ovarian insufficiency (POI), or premature ovarian failure, is defined as the cessation of ovarian function before the age of 40. An insufficient ovarian follicle pool derived from primordial germ cells (PGCs) is an important cause of POI. Although the Nanos gene family is known to be required for PGC development and maintenance in diverse model organisms, the relevance of this information to human biology is not yet clear. In this study, we screened the coding regions of the NANOS1, NANOS2 and NANOS3 genes in 100 Chinese POI patients and identified four variants in the coding regions of these three genes, including one synonymous variant in NANOS3, one m...
Subjects
free text keywords: Immunology, Cell Biology, Cancer Research, Cellular and Molecular Neuroscience, Missense mutation, Molecular biology, Gene, Premature ovarian failure, medicine.disease, medicine, Premature ovarian insufficiency, Mutation, medicine.disease_cause, Protein degradation, Gene family, Population, education.field_of_study, education, Bioinformatics, Genetics, Biology, Original Article, POI, PGCs, NANOS3, human genetics, mouse model
Related Organizations
17 references, page 1 of 2

Coulam, CB, Adamson, SC, Annegers, JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986; 67: 604-606 [PubMed]

Pepling, ME, Spradling, AC. Female mouse germ cells form synchronously dividing cysts. Development. 1998; 125: 3323-3328 [PubMed]

Saitou, M, Barton, SC, Surani, MA. A molecular programme for the specification of germ cell fate in mice. Nature. 2002; 418: 293-300 [OpenAIRE] [PubMed]

Zou, K, Yuan, Z, Yang, Z, Luo, H, Sun, K, Zhou, L. Production of offspring from a germline stem cell line derived from neonatal ovaries. Nat Cell Biol. 2009; 11: 631-636 [OpenAIRE] [PubMed]

Johnson, J, Canning, J, Kaneko, T, Pru, JK, Tilly, JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature. 2004; 428: 145-150 [OpenAIRE] [PubMed]

Mosquera, L, Forristall, C, Zhou, Y, King, MLA. mRNA localized to the vegetal cortex of Xenopus oocytes encodes a protein with a nanos-like zinc finger domain. Development. 1993; 117: 377-386 [PubMed]

Koprunner, M, Thisse, C, Thisse, B, Raz, E. A zebrafish nanos-related gene is essential for the development of primordial germ cells. Genes Dev. 2001; 15: 2877-2885 [OpenAIRE] [PubMed]

Tsuda, M, Sasaoka, Y, Kiso, M, Abe, K, Haraguchi, S, Kobayashi, S. Conserved role of nanos proteins in germ cell development. Science. 2003; 301: 1239-1241 [PubMed]

Sano, H, Mukai, M, Kobayashi, S. Maternal Nanos and Pumilio regulate zygotic vasa expression autonomously in the germ-line progenitors of Drosophila melanogaster embryos. Dev Growth Differ. 2001; 43: 545-552 [OpenAIRE] [PubMed]

Kobayashi, S, Yamada, M, Asaoka, M, Kitamura, T. Essential role of the posterior morphogen nanos for germline development in Drosophila. Nature. 1996; 380: 708-711 [PubMed]

Bergsten, SE, Gavis, ER. Role for mRNA localization in translational activation but not spatial restriction of nanos RNA. Development. 1999; 126: 659-669 [PubMed]

Suzuki, A, Saga, Y. Nanos2 suppresses meiosis and promotes male germ cell differentiation. Genes Dev. 2008; 22: 430-435 [OpenAIRE] [PubMed]

Suzuki, H, Tsuda, M, Kiso, M, Saga, Y. Nanos3 maintains the germ cell lineage in the mouse by suppressing both Bax-dependent and -independent apoptotic pathways. Dev Biol. 2008; 318: 133-142 [OpenAIRE] [PubMed]

Abecasis, GR, Altshuler, D, Auton, A, Brooks, LD, Durbin, RM, Gibbs, RA. A map of human genome variation from population-scale sequencing. Nature. 2010; 467: 1061-1073 [OpenAIRE] [PubMed]

Kwok, JB, Taddei, K, Hallupp, M, Fisher, C, Brooks, WS, Broe, GA. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport. 1997; 8: 1537-1542 [PubMed]

17 references, page 1 of 2
Abstract
Primary ovarian insufficiency (POI), or premature ovarian failure, is defined as the cessation of ovarian function before the age of 40. An insufficient ovarian follicle pool derived from primordial germ cells (PGCs) is an important cause of POI. Although the Nanos gene family is known to be required for PGC development and maintenance in diverse model organisms, the relevance of this information to human biology is not yet clear. In this study, we screened the coding regions of the NANOS1, NANOS2 and NANOS3 genes in 100 Chinese POI patients and identified four variants in the coding regions of these three genes, including one synonymous variant in NANOS3, one m...
Subjects
free text keywords: Immunology, Cell Biology, Cancer Research, Cellular and Molecular Neuroscience, Missense mutation, Molecular biology, Gene, Premature ovarian failure, medicine.disease, medicine, Premature ovarian insufficiency, Mutation, medicine.disease_cause, Protein degradation, Gene family, Population, education.field_of_study, education, Bioinformatics, Genetics, Biology, Original Article, POI, PGCs, NANOS3, human genetics, mouse model
Related Organizations
17 references, page 1 of 2

Coulam, CB, Adamson, SC, Annegers, JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986; 67: 604-606 [PubMed]

Pepling, ME, Spradling, AC. Female mouse germ cells form synchronously dividing cysts. Development. 1998; 125: 3323-3328 [PubMed]

Saitou, M, Barton, SC, Surani, MA. A molecular programme for the specification of germ cell fate in mice. Nature. 2002; 418: 293-300 [OpenAIRE] [PubMed]

Zou, K, Yuan, Z, Yang, Z, Luo, H, Sun, K, Zhou, L. Production of offspring from a germline stem cell line derived from neonatal ovaries. Nat Cell Biol. 2009; 11: 631-636 [OpenAIRE] [PubMed]

Johnson, J, Canning, J, Kaneko, T, Pru, JK, Tilly, JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature. 2004; 428: 145-150 [OpenAIRE] [PubMed]

Mosquera, L, Forristall, C, Zhou, Y, King, MLA. mRNA localized to the vegetal cortex of Xenopus oocytes encodes a protein with a nanos-like zinc finger domain. Development. 1993; 117: 377-386 [PubMed]

Koprunner, M, Thisse, C, Thisse, B, Raz, E. A zebrafish nanos-related gene is essential for the development of primordial germ cells. Genes Dev. 2001; 15: 2877-2885 [OpenAIRE] [PubMed]

Tsuda, M, Sasaoka, Y, Kiso, M, Abe, K, Haraguchi, S, Kobayashi, S. Conserved role of nanos proteins in germ cell development. Science. 2003; 301: 1239-1241 [PubMed]

Sano, H, Mukai, M, Kobayashi, S. Maternal Nanos and Pumilio regulate zygotic vasa expression autonomously in the germ-line progenitors of Drosophila melanogaster embryos. Dev Growth Differ. 2001; 43: 545-552 [OpenAIRE] [PubMed]

Kobayashi, S, Yamada, M, Asaoka, M, Kitamura, T. Essential role of the posterior morphogen nanos for germline development in Drosophila. Nature. 1996; 380: 708-711 [PubMed]

Bergsten, SE, Gavis, ER. Role for mRNA localization in translational activation but not spatial restriction of nanos RNA. Development. 1999; 126: 659-669 [PubMed]

Suzuki, A, Saga, Y. Nanos2 suppresses meiosis and promotes male germ cell differentiation. Genes Dev. 2008; 22: 430-435 [OpenAIRE] [PubMed]

Suzuki, H, Tsuda, M, Kiso, M, Saga, Y. Nanos3 maintains the germ cell lineage in the mouse by suppressing both Bax-dependent and -independent apoptotic pathways. Dev Biol. 2008; 318: 133-142 [OpenAIRE] [PubMed]

Abecasis, GR, Altshuler, D, Auton, A, Brooks, LD, Durbin, RM, Gibbs, RA. A map of human genome variation from population-scale sequencing. Nature. 2010; 467: 1061-1073 [OpenAIRE] [PubMed]

Kwok, JB, Taddei, K, Hallupp, M, Fisher, C, Brooks, WS, Broe, GA. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport. 1997; 8: 1537-1542 [PubMed]

17 references, page 1 of 2
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