Identification of de novo genetic targets associated with natural & accelerated ageing by single-cell whole exome sequencing
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摘要Advanced 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).
著者Qian 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.
會議名稱European Society of Human Genetics: European Human Genetics Conference 2017
會議開始日27.05.2017
會議完結日30.05.2017
會議地點Copenhagen
會議國家/地區丹麥
出版年份2017
月份5
語言英式英語
關鍵詞Oocyte, Ageing, Single-cell sequencing

上次更新時間 2018-18-01 於 08:23