美国国立卫生研究院Adam M. Phillippy等研究人员合作完成猿类性染色体的完整序列和比较分析。2024年5月29日，《自然》杂志在线发表了这项成果。

研究人员使用为端粒到端粒（T2T）人类基因组开发的方法，为五种猿类：倭黑猩猩（Pan paniscus）、黑猩猩（Pan troglodytes）、西非低地大猩猩（Gorilla gorilla gorilla）、婆罗洲猩猩（Pongo pygmaeus）和苏门答腊猩猩（Pongo abelii）以及一种小型猿类：合趾猿（Symphalangus syndactylus），制作了无间隙的 X 和 Y 染色体组，并解开了它们错综复杂的演化过程。与 X 染色体相比，猿类 Y 染色体的大小差异很大，可排列性低，结构重排程度高。

这是由于积累了特定谱系的扩增区、回文、转座元件和卫星。许多 Y 染色体基因在多拷贝家族中扩展，有些基因在纯化选择下演化。因此，Y 染色体呈现动态演化，而 X 染色体则更为稳定。将短读长测序数据映射到这些集合上揭示了 100 多只猿类性染色体的多样性和选择模式。这些参考组合有望为人类演化和非人猿类（均为濒危物种）的保护遗传学提供信息。

据了解，猿类拥有两条性染色体——雄性特有的 Y 染色体和雌雄均有的 X 染色体。Y 染色体对雄性繁殖至关重要，缺失与不育有关。X 染色体对生殖和认知至关重要。猿类交配模式和大脑功能的差异表明，它们的性染色体也存在相应的差异。然而，由于猿类性染色体的重复性和参考组装的不完整性，猿类性染色体的研究一直具有挑战性。

附：英文原文

Title: The complete sequence and comparative analysis of ape sex chromosomes

Author: Makova, Kateryna D., Pickett, Brandon D., Harris, Robert S., Hartley, Gabrielle A., Cechova, Monika, Pal, Karol, Nurk, Sergey, Yoo, DongAhn, Li, Qiuhui, Hebbar, Prajna, McGrath, Barbara C., Antonacci, Francesca, Aubel, Margaux, Biddanda, Arjun, Borchers, Matthew, Bornberg-Bauer, Erich, Bouffard, Gerard G., Brooks, Shelise Y., Carbone, Lucia, Carrel, Laura, Carroll, Andrew, Chang, Pi-Chuan, Chin, Chen-Shan, Cook, Daniel E., Craig, Sarah J. C., de Gennaro, Luciana, Diekhans, Mark, Dutra, Amalia, Garcia, Gage H., Grady, Patrick G. S., Green, Richard E., Haddad, Diana, Hallast, Pille, Harvey, William T., Hickey, Glenn, Hillis, David A., Hoyt, Savannah J., Jeong, Hyeonsoo, Kamali, Kaivan, Pond, Sergei L. Kosakovsky, LaPolice, Troy M., Lee, Charles, Lewis, Alexandra P., Loh, Yong-Hwee E., Masterson, Patrick, McGarvey, Kelly M., McCoy, Rajiv C., Medvedev, Paul, Miga, Karen H., Munson, Katherine M., Pak, Evgenia, Paten, Benedict, Pinto, Brendan J., Potapova, Tamara, Rhie, Arang, Rocha, Joana L., Ryabov, Fedor, Ryder, Oliver A., Sacco, Samuel, Shafin, Kishwar, Shepelev, Valery A., Slon, Viviane, Solar, Steven J., Storer, Jessica M., Sudmant, Peter H., Sweetalana, Sweeten, Alex, Tassia, Michael G., Thibaud-Nissen, Franoise, Ventura, Mario, Wilson, Melissa A., Young, Alice C., Zeng, Huiqing, Zhang, Xinru

Issue&Volume: 2024-05-29

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.

DOI: 10.1038/s41586-024-07473-2

Source: https://www.nature.com/articles/s41586-024-07473-2