动物性染色体剂量补偿

doi:10.16288/j.yczz.24-165

遗传 ›› 2025, Vol. 47 ›› Issue (2): 200-210.doi: 10.16288/j.yczz.24-165

动物性染色体剂量补偿

陈小舒(), 陈家璧

中山大学中山医学院生物与医学遗传学系，广州 510080

收稿日期:2024-06-06 修回日期:2024-08-02 出版日期:2025-02-20 发布日期:2024-08-21
通讯作者: 陈小舒，教授，博士生导师，研究方向：分子进化。E-mail: chenxshu3@mail.sysu.edu.cn
基金资助:
国家自然科学基金项目(32222018);国家自然科学基金项目(32170635)

Dosage compensation of sex chromosomes in animals

Xiaoshu Chen(), Jiabi Chen

Department of Biology and Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China

Received:2024-06-06 Revised:2024-08-02 Published:2025-02-20 Online:2024-08-21
Supported by:
National Natural Science Foundation of China(32222018);National Natural Science Foundation of China(32170635)

摘要/Abstract

摘要：

性染色体的起源与演化是生物学领域长期关注的研究方向，动物界研究最多的两种性染色体系统是XY系统和ZW系统。Y/W染色体退化导致性连锁基因沉默和缺失，与常染色体基因以及同配型(XX/ZZ)的性连锁基因相比，异配型(XY/ZW)的性连锁基因剂量减少。针对性染色体与常染色体的剂量失衡问题，目前已经提出了多种模型解释剂量补偿的进化机制。基于性染色体剂量效应研究的复杂性，本文首先总结了哺乳动物的转录组、蛋白质组、单倍体、单细胞等多个角度的研究结果，随后在多物种中总结了性染色体剂量效应在多个系统发育分支情况，最后归纳了剂量效应的理论模型以及研究展望。

关键词: 性染色体, 剂量补偿, 剂量不敏感

Abstract:

The origin and evolution of sex chromosomes have long been a focus of research in biology. Two of the most studied systems are the XY system and the ZW system. Due to Y/W degeneration, heterozygous (XY/ZW) sex-linked genes are absent and their dosage is reduced when compared to autosomal genes and homozygous (XX/ZZ) sex-linked genes, creating an issue of dosage imbalance between sex chromosomes and autosomes. Multiple evolutionary models have been proposed to explain the evolutionary mechanism of dosage compensation that might resolve such dosage imbalance. In this review, we summarize the findings related to the dosage effect of sex chromosomes from a variety of perspectives, including transcriptomes, proteomes, haploid cells, and single cells. In addition, a summary of the dosage effect of sex chromosomes in major phylogenetic branches of multiple species is provided. Finally, we approved an overview of the related theoretical models and future research directions at the end of this paper.

Key words: sex chromosomes, dosage compensation, dosage insensitivity

陈小舒, 陈家璧. 动物性染色体剂量补偿[J]. 遗传, 2025, 47(2): 200-210.

Xiaoshu Chen, Jiabi Chen. Dosage compensation of sex chromosomes in animals[J]. Hereditas(Beijing), 2025, 47(2): 200-210.

图/表 2

图1

表1

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物种	所有基因		一对一同源物基因
物种	S∶AA比率	是否存在剂量补偿	S∶AA比率	是否存在剂量补偿
人类(Homo sapiens)	0.52^*	否	0.55^*	否
黑猩猩(Pan troglodytes)	0.60	否	0.42^*	否
大猩猩(Gorilla gorilla)	0.56^*	否	0.34	否
苏门答腊猩猩(Pongo abelii)	0.46	否	-	-
猕猴(Macaca mulatta)	0.46^*	否	0.43^*	否
狒狒(Papio anubis)	0.58	否	0.53^*	否
绿猴(Chlorocebus sabaeus)	0.61^*	否	0.58	否
狨猴(Callithrix jacchus)	0.53^*	否	0.41^*	否
小鼠(Mus musculus)	0.47^*	否	0.55^*	否
家鼠(Rattus norvegicus)	0.56^*	否	0.40^*	否
兔(Oryctolagus cuniculus)	0.37	否	-	-
羊(Ovis aries)	0.59	否	0.55^*	否
牛(Bos taurus)	0.49^*	否	0.42^*	否
猪(Sus scrofa)	0.75	否	0.68^*	否
狗(Canis familiaris)	0.53^*	否	0.40	否
猫(Felis catus)	0.54^*	否	0.48^*	否
马(Equus caballus)	0.54^*	否	0.40^*	否
负鼠(Monodelphis domestica)	0.95^＃	是	0.47^*	否
斑胸草雀(Taeniopygia guttata)	0.63^*	否	-	-
火鸡(Meleagris gallopavo)	0.55^*	否	0.45^*	否
家鸡(Gallus gallus)	0.44^*	否	0.67^*	否
青鳉(Oryzias latipes)	0.85	是	1.06^＃	是
三棘刺鱼(Gastrosteus acureatus)	0.80^＃	是	0.91^＃	是
疟蚊(Anopheles gambiae)	1.00^＃	是	0.98^＃	是
非洲果蝇(Drosophila yakuba)	0.92^＃	是	1.05^＃	是
黑腹果蝇(Drosophila melanogaster)	1.06^＃	是	1.04^＃	是
拟果蝇(Drosophila simulans)	0.93^＃	是	-	-

动物性染色体剂量补偿

Dosage compensation of sex chromosomes in animals

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