Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility in Thoka sheep

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Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility in Thoka sheep. / Nicel, Linda; Bishop, Stephen; Pong-Wong, Richardo; Bendixen, Christian; Holm, Lars-Erik; Rind, Stewart; McNeilly, Alan.

I: Reproduction, Bind 138, Nr. 6, 2009, s. 921-933.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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Nicel, Linda ; Bishop, Stephen ; Pong-Wong, Richardo ; Bendixen, Christian ; Holm, Lars-Erik ; Rind, Stewart ; McNeilly, Alan. / Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility in Thoka sheep. I: Reproduction. 2009 ; Bind 138, Nr. 6. s. 921-933.

Bibtex

@article{47f37980cefd11de8cbb000ea68e967b,
title = "Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility in Thoka sheep",
abstract = "The control of fecundity is critical in determining mammalian offspring survival. It is regulated principally by the ovulation rate, so that primates and large farm species commonly have single offspring. Previously, several mutations have been identified in sheep which increase the naturally low ovulation rate, although in some cases homozygous ewes are infertile. In the present study we present a detailed characterisation of a novel mutation in growth differentiation factor 9 (GDF9), found in Icelandic Thoka sheep. This mutation is a single base change (A1279C) resulting in a non-conservative amino acid change (S109R) in the C-terminus of the mature GDF9 protein, which is normally expressed in oocytes at all stages of development. Genotyping all animals for which reproductive records were available confirmed this mutation to be associated with increased fecundity in heterozygous ewes and infertility in homozygotes. Analysis of homozygote ovarian morphology and a number of genes normally activated in growing follicles showed that GDF9 was not involved in oocyte activation, but in subsequent development of the follicle. This study highlights the importance of oocyte factors in regulating fertility and provides new information for structural analysis and investigation of the potentially important sites of dimerization or translational modifications required to produce biologically active GDF9. It also provides the basis for the utilisation of these animals to enhance sheep production",
author = "Linda Nicel and Stephen Bishop and Richardo Pong-Wong and Christian Bendixen and Lars-Erik Holm and Stewart Rind and Alan McNeilly",
year = "2009",
doi = "10.1530/REP-09-0193",
language = "English",
volume = "138",
pages = "921--933",
journal = "Reproduction",
issn = "1470-1626",
publisher = "BioScientifica Ltd.",
number = "6",

}

RIS

TY - JOUR

T1 - Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility in Thoka sheep

AU - Nicel, Linda

AU - Bishop, Stephen

AU - Pong-Wong, Richardo

AU - Bendixen, Christian

AU - Holm, Lars-Erik

AU - Rind, Stewart

AU - McNeilly, Alan

PY - 2009

Y1 - 2009

N2 - The control of fecundity is critical in determining mammalian offspring survival. It is regulated principally by the ovulation rate, so that primates and large farm species commonly have single offspring. Previously, several mutations have been identified in sheep which increase the naturally low ovulation rate, although in some cases homozygous ewes are infertile. In the present study we present a detailed characterisation of a novel mutation in growth differentiation factor 9 (GDF9), found in Icelandic Thoka sheep. This mutation is a single base change (A1279C) resulting in a non-conservative amino acid change (S109R) in the C-terminus of the mature GDF9 protein, which is normally expressed in oocytes at all stages of development. Genotyping all animals for which reproductive records were available confirmed this mutation to be associated with increased fecundity in heterozygous ewes and infertility in homozygotes. Analysis of homozygote ovarian morphology and a number of genes normally activated in growing follicles showed that GDF9 was not involved in oocyte activation, but in subsequent development of the follicle. This study highlights the importance of oocyte factors in regulating fertility and provides new information for structural analysis and investigation of the potentially important sites of dimerization or translational modifications required to produce biologically active GDF9. It also provides the basis for the utilisation of these animals to enhance sheep production

AB - The control of fecundity is critical in determining mammalian offspring survival. It is regulated principally by the ovulation rate, so that primates and large farm species commonly have single offspring. Previously, several mutations have been identified in sheep which increase the naturally low ovulation rate, although in some cases homozygous ewes are infertile. In the present study we present a detailed characterisation of a novel mutation in growth differentiation factor 9 (GDF9), found in Icelandic Thoka sheep. This mutation is a single base change (A1279C) resulting in a non-conservative amino acid change (S109R) in the C-terminus of the mature GDF9 protein, which is normally expressed in oocytes at all stages of development. Genotyping all animals for which reproductive records were available confirmed this mutation to be associated with increased fecundity in heterozygous ewes and infertility in homozygotes. Analysis of homozygote ovarian morphology and a number of genes normally activated in growing follicles showed that GDF9 was not involved in oocyte activation, but in subsequent development of the follicle. This study highlights the importance of oocyte factors in regulating fertility and provides new information for structural analysis and investigation of the potentially important sites of dimerization or translational modifications required to produce biologically active GDF9. It also provides the basis for the utilisation of these animals to enhance sheep production

U2 - 10.1530/REP-09-0193

DO - 10.1530/REP-09-0193

M3 - Journal article

C2 - 19713444

VL - 138

SP - 921

EP - 933

JO - Reproduction

JF - Reproduction

SN - 1470-1626

IS - 6

ER -