中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
首页 机构 成果 学者
  
  1. CAS IR Grid
  2. 上海营养与健康研究所
  3. 中国科学院上海生命科学研究院营养科学研究所
A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family

文献类型：期刊论文

作者Zhang, Chao3,4; Liu, Jiaojiao3; Lu, Yan3; Lou, Haiyi3; Fu, Ruiqing3,4; Wu, Zhendong3,4,5; Yang, Xiong3,4; Xu, Shuhua3,4,5; Liu, Jiaojiao5; Iqbal, Furhan1
刊名HEREDITY
出版日期2018
卷号120期号:1页码:83-89
ISSN号0018-067X
DOI10.1038/s41437-017-0021-6
文献子类Article
英文摘要Disease-associated variants in the human genome are continually being identified using DNA sequencing technologies that are especially effective for Mendelian disorders. Here we sequenced whole genome to high coverage (>30x) of 6 members of a 7-generation family with dwarfism from a consanguineous tribe in Pakistan to determine the causal variant(s). We identified a missense variant rs111033552 (c.2011T>C [p.Ser671Pro]) located in COL10A1 (encodes the alpha chain of type X collagen) as the most likely contributor to the dwarfism. We further confirmed the variant in 22 family members using Sanger sequencing. All affected individuals are heterozygous for the missense mutation rs111033552 and no individual homozygous was observed. Moreover, the mutation was absent in 69,985 individuals representing >150 global populations. Taking advantage of whole-genome sequencing data, we also examined other variant forms, including copy number variation and insertion/deletion, but failed to identify such variants enriched in the affected individuals. Thus rs111033552 had priority for linkage with dwarfism.
学科主题Environmental Sciences & Ecology ; Evolutionary Biology ; Genetics & Heredity
WOS关键词SCHMID METAPHYSEAL CHONDRODYSPLASIA ; COLLAGEN GENE COL10A1 ; MISSING HERITABILITY ; DISEASE ; HEIGHT ; CHAIN ; ARCHITECTURE ; DISCOVERY ; FRAMEWORK ; VARIANT
语种英语
出版者NATURE PUBLISHING GROUP
WOS记录号WOS:000419939400008
版本出版稿
源URL[http://202.127.25.144/handle/331004/620]  
专题中国科学院上海生命科学研究院营养科学研究所
作者单位1.Bahauddin Zakariya Univ Multan, Inst Pure & Appl Biol, Dept Zool, Multan, Pakistan;
2.Collaborat Innovat Ctr Genet & Dev, Shanghai 200438, Peoples R China,
3.Chinese Acad Sci, Shanghai Inst Biol Sci, CAS MPG Partner Inst Computat Biol PICB, Max Planck Independent Res Grp Populat Genom,Key, Shanghai 200031, Peoples R China;
4.Univ Chinese Acad Sci, Beijing 100049, Peoples R China;
5.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 201210, Peoples R China;
6.King Saud Univ, Dept Biochem, Prince Mutaib Chair Biomarkers Osteoporosis, Biomarkers Res Program, Riyadh 11451, Saudi Arabia;
推荐引用方式
GB/T 7714		 Zhang, Chao,Liu, Jiaojiao,Lu, Yan,et al. A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family[J]. HEREDITY,2018,120(1):83-89.
APA Zhang, Chao.,Liu, Jiaojiao.,Lu, Yan.,Lou, Haiyi.,Fu, Ruiqing.,...&,.(2018).A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family.HEREDITY,120(1),83-89.
MLA Zhang, Chao,et al."A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family".HEREDITY 120.1(2018):83-89.

入库方式： OAI收割

来源：上海营养与健康研究所

浏览0
下载0
收藏0
其他版本

除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。