小年
(2024-06-30 23:17):
#paper The complete sequence and comparative analysis of ape sex chromosomes. Nature. 2024 Jun 13. doi: 10.1038/s41586-024-07473-2.
在本篇文章中,作者通过对五种大猿(倭黑猩猩、黑猩猩、西部低地大猩猩、婆罗洲猩猩和苏门答腊猩猩)和一种小猿(长臂猿)的X和Y染色体进行了端到端(T2T)无间隙组装,并对其性染色体的结构和进化进行了详细分析。研究发现,Y染色体在大小、序列对齐度和结构重排方面存在显著变异,而X染色体则相对更为稳定。具体来说,Y染色体在不同物种间的大小从30 Mb到68 Mb不等,而X染色体的大小范围较小,约为154 Mb到178 Mb。Y染色体表现出大量的结构重排,如倒位和插入,这些重排与基因功能的进化密切相关。此外,研究还发现Y染色体的放大区和倒位重复区显著扩展,并在不同物种中表现出快速进化。
阅读思考:这项研究通过对多个大猿物种的性染色体进行无间隙组装,极大地丰富了我们对灵长类动物性染色体结构和进化的理解。特别是,研究揭示了Y染色体的高度变异性和快速进化特征,这对于理解灵长类动物的性别决定和生殖生物学具有重要意义。此外,这些高质量的参考基因组为濒危的非人类大猿的保护提供了宝贵的遗传信息。然而,该研究的一个限制是其主要依赖于短读和长读测序数据,可能对某些高度重复区域的准确性有所不足。未来的研究应结合更多的高覆盖度长读测序技术,以提供更全面和精确的性染色体数据,从而更好地服务于灵长类动物的进化研究和保护基因组学。此外,扩大研究物种的范围,特别是包含更多的灵长类物种,将有助于全面理解性染色体的进化模式和功能多样性
The complete sequence and comparative analysis of ape sex chromosomes
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Abstract:
Apes possess two sex chromosomes-the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked to infertility. The X chromosome is vital for reproduction and cognition. Variation in mating patterns and brain function among apes suggests corresponding differences in their sex chromosomes. However, owing to their repetitive nature and incomplete reference assemblies, ape sex chromosomes have been challenging to study. Here, using the methodology developed for the telomere-to-telomere (T2T) human genome, we produced gapless assemblies of the X and Y chromosomes for five great apes (bonobo (Pan paniscus), chimpanzee (Pan troglodytes), western lowland gorilla (Gorilla gorilla gorilla), Bornean orangutan (Pongo pygmaeus) and Sumatran orangutan (Pongo abelii)) and a lesser ape (the siamang gibbon (Symphalangus syndactylus)), and untangled the intricacies of their evolution. Compared with the X chromosomes, the ape Y chromosomes vary greatly in size and have low alignability and high levels of structural rearrangements-owing to the accumulation of lineage-specific ampliconic regions, palindromes, transposable elements and satellites. Many Y chromosome genes expand in multi-copy families and some evolve under purifying selection. Thus, the Y chromosome exhibits dynamic evolution, whereas the X chromosome is more stable. Mapping short-read sequencing data to these assemblies revealed diversity and selection patterns on sex chromosomes of more than 100 individual great apes. These reference assemblies are expected to inform human evolution and conservation genetics of non-human apes, all of which are endangered species.
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