Insights into variation in meiosis from 31,228 human sperm genomes

doi:10.1038/s41586-020-2347-0

GSTDTAP > 地球科学

DOI	10.1038/s41586-020-2347-0
	Insights into variation in meiosis from 31,228 human sperm genomes
	Sakai, Akito 1,2,3; Minami, Susumu 4,5; Koretsune, Takashi 6; Chen, Taishi 1,3; Higo, Tomoya 1,3; Wang, Yangming 1; Nomoto, Takuya 7; Hirayama, Motoaki 5; Miwa, Shinji 1,3,8,9,10; Nishio-Hamane, Daisuke 1; Ishii, Fumiyuki 4,5; Arita, Ryotaro 3,5,7; Nakatsuji, Satoru 1,2,3,8,9,10
	2020-04-27
发表期刊	NATURE
ISSN	0028-0836
EISSN	1476-4687
出版年	2020
卷号	583 期号:7815 页码:259-+
文章类型	Article
语种	英语
国家	USA
英文关键词	Meiosis, although essential for reproduction, is also variable and error-prone: rates of chromosome crossover vary among gametes, between the sexes, and among humans of the same sex, and chromosome missegregation leads to abnormal chromosome numbers (aneuploidy)(1-8). To study diverse meiotic outcomes and how they covary across chromosomes, gametes and humans, we developed Sperm-seq, a way of simultaneously analysing the genomes of thousands of individual sperm. Here we analyse the genomes of 31,228 human gametes from 20 sperm donors, identifying 813,122 crossovers and 787 aneuploid chromosomes. Sperm donors had aneuploidy rates ranging from 0.01 to 0.05 aneuploidies per gamete crossovers partially protected chromosomes from nondisjunction at the meiosis I cell division. Some chromosomes and donors underwent more-frequent nondisjunction during meiosis I, and others showed more meiosis II segregation failures. Sperm genomes also manifested manygenomic anomalies that could not be explained by simple nondisjunction. Diverse recombination phenotypes-from crossover rates to crossover location and separation, a measure of crossover interference-covaried strongly across individuals and cells. Our results can be incorporated with earlier observations into a unified model in which a core mechanism, the variable physical compaction of meiotic chromosomes, generates interindividual and cell-to-cell variation in diverse meiotic phenotypes.
领域	地球科学 ; 气候变化 ; 资源环境
收录类别	SCI-E
WOS记录号	WOS:000546767100018
WOS关键词	MEIOTIC RECOMBINATION ; PATERNAL NONDISJUNCTION ; CROSSOVER INTERFERENCE ; DNA ; ANEUPLOIDY ; NUMBER ; CELLS ; RATES ; MAPS ; DECONDENSATION
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
引用统计
文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/281551
专题	地球科学资源环境科学气候变化
作者单位	1.Univ Tokyo, Inst Solid State Phys, Kashiwa, Chiba, Japan; 2.Univ Tokyo, Dept Phys, Tokyo, Japan; 3.Japan Sci & Technol Agcy JST, CREST, Kawaguchi, Saitama, Japan; 4.Kanazawa Univ, Nanomat Res Inst, Kanazawa, Ishikawa, Japan; 5.RIKEN, CEMS, Wako, Saitama, Japan; 6.Tohoku Univ, Dept Phys, Sendai, Miyagi, Japan; 7.Univ Tokyo, Dept Appl Phys, Tokyo, Japan; 8.Univ Tokyo, Trans Scale Quantum Sci Inst, Tokyo, Japan; 9.Johns Hopkins Univ, Inst Quantum Matter, Baltimore, MD 21218 USA; 10.Johns Hopkins Univ, Dept Phys & Astron, Baltimore, MD 21218 USA
推荐引用方式 GB/T 7714	Sakai, Akito,Minami, Susumu,Koretsune, Takashi,et al. Insights into variation in meiosis from 31,228 human sperm genomes[J]. NATURE,2020,583(7815):259-+.
APA	Sakai, Akito.,Minami, Susumu.,Koretsune, Takashi.,Chen, Taishi.,Higo, Tomoya.,...&Nakatsuji, Satoru.(2020).Insights into variation in meiosis from 31,228 human sperm genomes.NATURE,583(7815),259-+.
MLA	Sakai, Akito,et al."Insights into variation in meiosis from 31,228 human sperm genomes".NATURE 583.7815(2020):259-+.