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Prioritization of putatively detrimental variants in euploid miscarriages
medRxiv - Genetic and Genomic Medicine Pub Date : 2021-03-12 , DOI: 10.1101/2021.01.02.20248961
Silvia Buonaiuto , Immacolata Di Biase , Valentina Aleotti , Amin Ravaei , Adriano De Marino , Gianluca Damaggio , Marco Chierici , Madhuri Pulijala , Palmira D’Ambrosio , Gabriella Esposito , Qasim Ayub , Cesare Furlanello , Pantaleo Greco , Antonio Capalbo , Michele Rubini , Sebastiano Di Biase , Vincenza Colonna

Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed GP, a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.

中文翻译:

优先对整倍体流产中可能有害的变体进行排序

流产是在妊娠24周之前自然终止妊娠。我们研究了健康成年个体中母亲的整倍体流产胚胎的基因组,以了解并非由染色体非整倍性引起的流产的遗传易感性。我们开发了GP,该管道用于对399个基因(包括已知与流产相关的基因)中的439个独特变体进行优先级排序。在优先排序的基因中,我们发现STAG2编码粘着蛋白复合物亚基,小鼠中的失活具有致死性,而TLE4是Notch和Wnt的靶标,与第9号染色体上与流产相关的区域发生了物理相互作用。
更新日期:2021-03-12
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