文献类型： 外文期刊

第一作者： Guang-Xin, E.

作者： Guang-Xin, E.;Yang, Bai-Gao;Zhang, Jia-Hua;Zhao, Yong-Ju;Duan, Xing-Hai;He, Yong-Meng;Na, Ri-Su;Han, Yan-Guo;Zeng, Yan;Huang, Yong-Fu;Zhou, Dong-Ke;Zheng, Zhu-Qing;Jiang, Yu;Li, Xiang-Long;Li, Lan-Hui;Zhou, Rong-Yan;Nai, Wen-Hui;Jiang, Xun-Ping;Hong, Qiong-Hua;Ma, Yue-Hui;Chu, Ming-Xing;Gao, Hui-Jiang

作者机构： Southwest Univ, Coll Anim Sci & Technol, Chongqing Engn Res Ctr Herbivores Resource Protec, Chongqing Key Lab Forage & Herbivore, Chongqing, Peoples R China;Northwest A&F Univ, Coll Anim Sci & Technol, Key Lab Anim Genet Breeding & Reprod Shaanxi Prov, Yangling, Shaanxi, Peoples R China;Hebei Normal Univ Sci & Technol, Coll Anim Sci & Technol, Qinhuangdao, Peoples R China;Agr Univ Hebei, Coll Anim Sci & Technol, Baoding, Peoples R China;Chinese Acad Sci, Kunming Inst Zool, Kunming, Yunnan, Peoples R China;Huazhong Agr Univ, Coll Anim Sci & Technol, Minist Educ, Key Lab Agr Anim Genet Breeding & Reprod, Wuhan, Peoples R China;Yunnan Anim Sci & Vet Inst, Dept Herbivore Sci, Kunming, Yunnan, Peoples R China;Chinese Acad Agr Sci CAAS, Inst Anim Sci, Beijing, Peoples R China

关键词： intersexuality; genome-wide selection; Hi-C; copy number variant; translocation

期刊名称：FRONTIERS IN GENETICS （ 2020影响因子：4.599； 五年影响因子：4.888 ）

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年卷期： 2021 年 11 卷

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收录情况： SCI

摘要： Background: Polled intersex syndrome (PIS) leads to reproductive disorders in goats and exerts a heavy influence on goat breeding. Since 2001, the core variant of an 11.7 kb deletion at similar to 129 Mb on chromosome 1 (CHI1) has been widely used as a genetic diagnostic criterion. In 2020, a similar to 0.48 Mb insertion within the PIS deletion was identified by sequencing in XX intersex goats. However, the suitability of this variation for the diagnosis of intersex goats worldwide and its further molecular genetic mechanism need to be clarified. Results: The whole-genome selective sweep of intersex goats from China was performed with whole-genome next-generation sequencing technology for large sample populations and a case-control study on interbreeds. A series of candidate genes related to the goat intersexuality phenotype were found. We further confirmed that a similar to 0.48 Mb duplicated fragment (including ERG and KCNJ15) downstream of the similar to 20 Mb PIS region was reversely inserted into the PIS locus in intersex Chinese goats and was consistent with that in European Saanen and Valais black-necked goats. High-throughput chromosome conformation capture (Hi-C) technology was then used to compare the 3D structures of the PIS variant neighborhood in CHI1 between intersex and non-intersex goats. A newly found structure was validated as an intrachromosomal rearrangement. This inserted duplication changed the original spatial structure of goat CHI1 and caused the appearance of several specific loop structures in the adjacent similar to 20 kb downstream region of FOXL2. Conclusions: Results suggested that the novel complex PIS variant genome was sufficient as a broad-spectrum clinical diagnostic marker of XX intersexuality in goats from Europe and China. A series of private dense loop structures caused by segment insertion into the PIS deletion might affect the expression of FOXL2 or other neighboring novel candidate genes. However, these structures require further in-depth molecular biological experimental verification. In general, this study provided new insights for future research on the molecular genetic mechanism underlying female-to-male sex reversal in goats.

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