現存する類人猿のX染色体とY染色体の完全な配列を決定(Complete X and Y chromosome sequences of living great ape species determined)

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2024-05-29 ペンシルベニア州立大学(PennState)

ペンシルベニア州立大学などの国際チームが、5種の大型類人猿と1種の小型類人猿の性染色体の完全なリファレンスゲノムを作成しました。特にY染色体の急速な変化が明らかになり、性染色体の進化や関連する病気の理解が進むと期待されます。研究によると、Y染色体はX染色体に比べて変異が多く、重複や再配列が頻繁に起こりますが、精子形成に重要な遺伝子が残っており、自然選択によって守られています。研究チームは、繰り返し配列とパリンドロームがY染色体の遺伝子を保護する役割を果たしていることも発見しました。この研究は、性染色体の進化や人類の病気研究に貢献する重要なリファレンスゲノムを提供します。

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類人猿の性染色体の全塩基配列と比較解析に成功 The complete sequence and comparative analysis of ape sex chromosomes

Kateryna D. Makova,Brandon D. Pickett,Robert S. Harris,Gabrielle A. Hartley,Monika Cechova,Karol Pal,Sergey Nurk,DongAhn Yoo,Qiuhui Li,Prajna Hebbar,Barbara C. McGrath,Francesca Antonacci,Margaux Aubel,Arjun Biddanda,Matthew Borchers,Erich Bornberg-Bauer,Gerard G. Bouffard,Shelise Y. Brooks,Lucia Carbone,Laura Carrel,Andrew Carroll,Pi-Chuan Chang,Chen-Shan Chin,Daniel E. Cook,… Adam M. Phillippy
Nature  Published:29 May 2024
DOI:https://doi.org/10.1038/s41586-024-07473-2

現存する類人猿のX染色体とY染色体の完全な配列を決定(Complete X and Y chromosome sequences of living great ape species determined)

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 infertility1. The X chromosome is vital for reproduction and cognition2. 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.

細胞遺伝子工学
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