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

IF 4.5 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Jianjun Liu, Siqi Liu, Jinxiu Dong, Min Tang, Taiyue Li, Jiahui Li, Xinjiang Bu, Xingquan Xia, Huaxing Zhou, Liuwang Nie
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引用次数: 0

Abstract

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.

猕猴XY性染色体的发现为KDM6B基因在温度依赖性和遗传性决定共存中的作用提供了新的视角。
长期以来,人们一直认为亚洲黄塘龟(Mauremys mutica)缺乏二态性染色体,主流理论认为这是一种完全依赖温度的性别决定(TSD)系统。在本研究中,利用纳米孔和Hi-C测序技术相结合,生成了一个N50为~23.59 Mb的雄性染色体水平基因组序列。我们利用生物信息学和细胞遗传学实验验证的组合来证明该物种确实拥有XY染色体,从而纠正了长期存在的误解。结果表明,亚洲黄塘龟的X染色体在进化后期独立产生,并经历了染色体重排。值得注意的是,性染色体表现出明显的重复扩增,其中95.9%包含重复序列。这种扩增主要是由LINE/CR1重复序列驱动的,它占X染色体总长度的55.2%。我们发现X染色体经历了较低的适应性进化率,支持“慢X”效应的概念。我们提出了一个关于位于两条XY染色体上的KDM6B的新模型,该模型介导了海龟与TSD + XY共存的性别决定机制。这项研究为进一步探索海龟和其他爬行动物性别决定的复杂性和性染色体的进化动力学铺平了道路。
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来源期刊
Molecular Ecology
Molecular Ecology 生物-进化生物学
CiteScore
8.40
自引率
10.20%
发文量
472
审稿时长
1 months
期刊介绍: Molecular Ecology publishes papers that utilize molecular genetic techniques to address consequential questions in ecology, evolution, behaviour and conservation. Studies may employ neutral markers for inference about ecological and evolutionary processes or examine ecologically important genes and their products directly. We discourage papers that are primarily descriptive and are relevant only to the taxon being studied. Papers reporting on molecular marker development, molecular diagnostics, barcoding, or DNA taxonomy, or technical methods should be re-directed to our sister journal, Molecular Ecology Resources. Likewise, papers with a strongly applied focus should be submitted to Evolutionary Applications. Research areas of interest to Molecular Ecology include: * population structure and phylogeography * reproductive strategies * relatedness and kin selection * sex allocation * population genetic theory * analytical methods development * conservation genetics * speciation genetics * microbial biodiversity * evolutionary dynamics of QTLs * ecological interactions * molecular adaptation and environmental genomics * impact of genetically modified organisms
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