Mutations in topoisomerase II beta result in a B cell immunodeficiency

doi:10.1038/s41467-017-02690-y

GSTDTAP > 资源环境科学

DOI	10.1038/s41467-017-02690-y
	Mutations in topoisomerase II beta result in a B cell immunodeficiency
	Broderick, Lori 1,2; Yost, Shawn 1,3; Li, Dong 4; McGeough, Matthew D.1,5; Booshehri, Laela M.1; Guaderrama, Marisela 1; Brydges, Susannah D.6; Kucharova, Karolina 7; Patel, Niraj C.8; Harr, Margaret 9,10; Hakonarson, Hakon 4,10; Zackai, Elaine 9,10; Cowell, Ian G.11; Austin, Caroline A.11; Hugle, Boris 12; Gebauer, Corinna 13; Zhang, Jianguo 14,15; Xu, Xun 14,15; Wang, Jian 14,15; Croker, Ben A.1; Frazer, Kelly A.1,2,16; Putnam, Christopher D.5,17; Hoffman, Hal M.1,2,5
	2019-08-13
发表期刊	NATURE COMMUNICATIONS
ISSN	2041-1723
出版年	2019
卷号	10
文章类型	Article
语种	英语
国家	USA; England; Germany; Peoples R China
英文摘要	B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription, with no previously known role in B cell development. We use Saccharomyces cerevisiae, and knockin and knockout murine models, to demonstrate that patient mutations in TOP2B have a dominant negative effect on enzyme function, resulting in defective proliferation, survival of B-2 cells, causing a block in B cell development, and impair humoral function in response to immunization.
领域	资源环境
收录类别	SCI-E
WOS记录号	WOS:000480519200007
WOS关键词	FLP RECOMBINASE ; KEY GENES ; DNA ; EXPRESSION ; TRANSCRIPTION ; GENOME ; MECHANISMS ; LINEAGE ; YEAST ; PROLIFERATION
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
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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/203645
专题	资源环境科学
作者单位	1.Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA; 2.Rady Childrens Hosp San Diego, San Diego, CA 92123 USA; 3.Inst Canc Res, Div Genet & Epidemiol, London SM2 5NG, England; 4.Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA; 5.Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA; 6.Regeneron Pharmaceut Inc, 777 Old Saw Mill River Rd, Tarrytown, NY 10591 USA; 7.Sanford Burnham Prebys Med Discovery Inst, Lab Mol Immunol, La Jolla, CA 92093 USA; 8.Atrium Hlth, Levine Childrens Hosp, Dept Pediat, Charlotte, NC 28203 USA; 9.Childrens Hosp Philadelphia, Dept Genet, Philadelphia, PA 19104 USA; 10.Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA; 11.Newcastle Univ, Inst Cell & Mol Biosci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England; 12.German Ctr Pediat & Adolescent Rheumatol, D-82467 Garmisch Partenkirchen, Germany; 13.Univ Leipzig, Univ Hosp Children & Adolescents, Div Neonatol, D-04109 Leipzig, Germany; 14.BGI Shenzhen, Beishan Ind Zone, Shenzhen 518083, Peoples R China; 15.BGI Shenzhen, China Natl GeneBank, Jinsha Rd, Shenzhen 518120, Peoples R China; 16.Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA; 17.Ludwig Inst Canc Res, San Diego Branch, La Jolla, CA 92093 USA
推荐引用方式 GB/T 7714	Broderick, Lori,Yost, Shawn,Li, Dong,et al. Mutations in topoisomerase II beta result in a B cell immunodeficiency[J]. NATURE COMMUNICATIONS,2019,10.
APA	Broderick, Lori.,Yost, Shawn.,Li, Dong.,McGeough, Matthew D..,Booshehri, Laela M..,...&Hoffman, Hal M..(2019).Mutations in topoisomerase II beta result in a B cell immunodeficiency.NATURE COMMUNICATIONS,10.
MLA	Broderick, Lori,et al."Mutations in topoisomerase II beta result in a B cell immunodeficiency".NATURE COMMUNICATIONS 10(2019).