Identification of de novo genetic targets associated with natural & accelerated ageing by single-cell whole exome sequencing
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AbstractAdvanced maternal ageing in women at the age of over 35 is currently a big health concern worldwide. It links to inferior fertilization rate and higher genetic risks in offspring. External factors like hormones and follicular cells have been reported comprehensively. However, the contribution of genetic alterations in oocyte ageing remains largely elusive due to limitation on experimental technologies and the limited amount of sample materials.
In this study, we aimed to identify natural and accelerated ageing-related genetic alternations, including single nucleotide polymorphism (SNPs) and copy number variations (CNVs) in mouse oocyte ageing models Four groups of female mice consisted of a young group (6-weeks-old), a natural aging group (36-weeks-old), an accelerated aging group (treated by 4-Vinycyclohexene diepoxide) and a vehicle group (treated by sesame oil) were mated with an adult male. The DNA samples derived from single oocytes and blood samples of females, offspring and males were subjected to whole exome sequencing. Natural and accelerated aging-related de novo variations (DNVs) and associated genes were identified. We found mutation patterns of DNVs were similar to mutational signatures in women cancers. Finally, we detected an aberrant CNV region in natural aging oocytes, where it contained genes involved in aging diseases and reproduction.
Taken together, our study highlighted the key genetic targets associated with oocyte aging. The data allows dissecting the aging mechanisms of subfertility in women with advanced maternal age.
This study was supported by Seed Fund, SBS, CUHK (Ref. No.: 6903807) and Research Council Funding, CUHK ( Ref. No.: C4004-15G).
All Author(s) ListQian Y., Liao J., Zeng X., Chi L., Chung C. H., Kong G. W., Leung T. Y., Chan W. Y., Li T. C., Lee T. L.
Name of ConferenceEuropean Society of Human Genetics: European Human Genetics Conference 2017
Start Date of Conference27/05/2017
End Date of Conference30/05/2017
Place of ConferenceCopenhagen
Country/Region of ConferenceDenmark
LanguagesEnglish-United Kingdom
KeywordsOocyte, Ageing, Single-cell sequencing

Last updated on 2018-18-01 at 08:23