Genetics of primary ovarian insufficiency: new developments and opportunities

@inproceedings{Qin2015GeneticsOP,
  title={Genetics of primary ovarian insufficiency: new developments and opportunities},
  author={Yingying Qin and Xue Jiao and Joe Leigh Simpson and Zi-Jiang Chen},
  booktitle={Human reproduction update},
  year={2015}
}
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked heterogeneity, but with a significant genetic contribution. Identifying exact causative genes has been challenging, with many discoveries not replicated. It is timely to take stock of the field, outlining the progress made, framing the controversies and anticipating future directions in elucidating the genetics of POI. METHODS A search for original articles published up to May 2015 was performed using PubMed and Google… CONTINUE READING

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Using the traditional karyotype methodology , monosomy X , mosaicism , X chromosome deletions and rearrangements , X - autosome translocations , and isochromosomes have been detected .
Based on candidate gene studies , single gene perturbations unequivocally having a deleterious effect in at least one population include Bone morphogenetic protein 15 ( BMP15 ) , Progesterone receptor membrane component 1 ( PGRMC1 ) , and Fragile X mental retardation 1 ( FMR1 ) premutation on the X chromosome ; Growth differentiation factor 9 ( GDF9 ) , Folliculogenesis specific bHLH transcription factor ( FIGLA ) , Newborn ovary homeobox gene ( NOBOX ) , Nuclear receptor subfamily 5 , group A , member 1 ( NR5A1 ) and Nanos homolog 3 ( NANOS3 ) seem likely as well , but mostly being found in no more than 1 - 2% of a single population studied .
Based on candidate gene studies , single gene perturbations unequivocally having a deleterious effect in at least one population include Bone morphogenetic protein 15 ( BMP15 ) , Progesterone receptor membrane component 1 ( PGRMC1 ) , and Fragile X mental retardation 1 ( FMR1 ) premutation on the X chromosome ; Growth differentiation factor 9 ( GDF9 ) , Folliculogenesis specific bHLH transcription factor ( FIGLA ) , Newborn ovary homeobox gene ( NOBOX ) , Nuclear receptor subfamily 5 , group A , member 1 ( NR5A1 ) and Nanos homolog 3 ( NANOS3 ) seem likely as well , but mostly being found in no more than 1 - 2% of a single population studied .
Using the traditional karyotype methodology , monosomy X , mosaicism , X chromosome deletions and rearrangements , X - autosome translocations , and isochromosomes have been detected .
Using the traditional karyotype methodology , monosomy X , mosaicism , X chromosome deletions and rearrangements , X - autosome translocations , and isochromosomes have been detected .
Given the slow progress in candidate - gene analysis and relatively small sample sizes available for GWAS , family - based whole exome and whole genome sequencing appear to be the most promising approaches for detecting potential genes responsible for POI . CONCLUSION .
Given the slow progress in candidate - gene analysis and relatively small sample sizes available for GWAS , family - based whole exome and whole genome sequencing appear to be the most promising approaches for detecting potential genes responsible for POI . CONCLUSION .
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