Department of Genetics and Animal Breeding, Poznań University of Life Sciences, Poznań, Poland.
Anim Genet. 2023 Apr;54(2):166-176. doi: 10.1111/age.13276. Epub 2022 Nov 28.
Disorders of sex development (DSDs) are discrepancies between sex chromosomes and phenotypical sex. Quite common forms of DSD in canine populations include testicular and ovotesticular XX DSDs with a normal set of sex chromosomes. The objective of this study was to identify genes and putative harmful variants for canine XX DSDs. I have reanalyzed data from the whole-genome sequencing of 11 XX DSD French Bulldogs and six XX DSD American Staffordshire Terriers. Identity-by-descent analysis revealed cryptic relatedness in affected French Bulldogs. Causative genes were sought in chromosomal segments shared identical-by-descent by close relatives. In French Bulldogs, the reanalysis identified 19 regions of importance with a total length of just 65.9 Mb. Variant filtering within the regions implicated AKAP2, PIWIL1, POLR3A and SH2D4B as genes that may be involved in individual cases of testicular and ovotesticular XX DSD in French Bulldogs and American Staffordshire Terriers.
性发育障碍（DSD）是性染色体和表型性别之间的差异。在犬类群体中，较为常见的 DSD 形式包括性染色体正常的睾丸和卵睾性 XX DSD。本研究的目的是鉴定犬类 XX DSD 的候选基因和有害变异。我重新分析了 11 例 XX DSD 法国斗牛犬和 6 例 XX DSD 美国斯塔福郡梗犬的全基因组测序数据。基于血统的分析显示受影响的法国斗牛犬存在隐性亲缘关系。在具有相同遗传血统的近亲共享的染色体片段中寻找候选致病基因。在法国斗牛犬中，重新分析确定了 19 个重要区域，总长度仅为 65.9Mb。对这些区域内的变异进行过滤，发现 AKAP2、PIWIL1、POLR3A 和 SH2D4B 可能是导致个别法国斗牛犬和美国斯塔福郡梗犬出现睾丸和卵睾性 XX DSD 的候选基因。
