Discovery of XY Sex Chromosomes in Mauremys mutica Provides Insights Into the Role of KDM6B Gene in Coexistence of Temperature-Dependent and Genetic Sex Determination
文献类型： 外文期刊
作者： Liu, Jianjun 1 ; Liu, Siqi 1 ; Dong, Jinxiu 1 ; Tang, Min 1 ; Li, Taiyue 1 ; Li, Jiahui 1 ; Bu, Xinjiang 1 ; Xia, Xingquan 1 ; Zhou, Huaxing 4 ; Nie, Liuwang 1 ;
作者机构： 1.Anhui Normal Univ, Life Sci Coll, Anhui Prov Key Lab Biodivers Conservat & Ecol Secu, Wuhu, Anhui, Peoples R China
2.Jiangxi Agr Univ, Coll Forestry, Jiangxi Prov Key Lab Conservat Biol, Nanchang, Peoples R China
3.Nanjing Normal Univ, Coll Life Sci, Jiangsu Key Lab Biodivers & Biotechnol, Nanjing, Jiangsu, Peoples R China
4.Anhui Acad Agr Sci, Fisheries Res Inst, Anhui Key Lab Aquaculture & Stock Enhancement, Hefei, Peoples R China
关键词： genome assembly; slower-X; turtles; zoology
期刊名称：MOLECULAR ECOLOGY （ 影响因子：3.9； 五年影响因子：4.8 ）
ISSN： 0962-1083
年卷期： 2025 年 34 卷 7 期
页码：
收录情况： SCI
摘要： The Asian yellow pond turtle (Mauremys mutica) has long been thought to lack dimorphic sex chromosomes, with prevailing theories suggesting a solely temperature-dependent sex determination (TSD) system. In this study, a male chromosome-level genomic sequence with a contig N50 of ~23.59 Mb was generated using a combination of both Nanopore and Hi-C sequencing technologies. We utilise a combination of bioinformatics and cytogenetic experimental validation to demonstrate that this species indeed possesses XY chromosomes, thereby correcting a longstanding misconception. The results suggest that the X chromosome of the Asian yellow pond turtle originated independently during later stages of evolution and underwent chromosomal rearrangements. Notably, it was observed that the sex chromosomes exhibited a significant repeat expansion, with 95.9% comprising repetitive sequences. This expansion is primarily driven by LINE/CR1 repeats, which account for 55.2% of the total length of the X chromosome. We found that the X chromosome underwent a lower rate of adaptive evolution, supporting the concept of the "slower-X" effect. We present a novel model concerning the KDM6B, which is located on both XY chromosomes, mediates a sex determination mechanism that coexists with TSD + XY in turtles. This study paves the way for further exploration into the complexities of sex determination and the evolutionary dynamics of sex chromosomes in turtles and potentially other reptiles.
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