Abstract：
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.
摘要：
性发育障碍（DSD）是性染色体和表型性别之间的差异。犬类人群中常见的DSD形式包括睾丸和睾丸XXDSD，具有正常的性染色体组。这项研究的目的是鉴定犬XXDSD的基因和推定的有害变体。我重新分析了11只XXDSD法国斗牛犬和6只XXDSD美国斯塔福德郡猎犬的全基因组测序数据。按血统身份分析显示，受影响的法国斗牛犬之间存在隐秘的相关性。近亲在血统相同的染色体片段中寻找致病基因。在法国斗牛犬，重新分析确定了19个重要区域，总长度仅为65.9Mb。区域内的变异过滤涉及AKAP2，PIWIL1，POLR3A和SH2D4B基因，这些基因可能与法国斗牛犬和美国斯塔福德郡猎犬的睾丸和睾丸XXDSD的个别病例有关。
