Resequencing of the Col1A1 gene of Oryctolagus cuniculus identifies splicing errors and single nucleotide polymorphisms

被引:0
|
作者
James R. Gilbert
Gwen M. Taylor
Joseph E. Losee
Mark P. Mooney
Gregory M. Cooper
机构
[1] University of Pittsburgh/Children’s Hospital of Pittsburgh,Department of Plastic Surgery
[2] University of Pittsburgh/Children’s Hospital of Pittsburgh,Department of Pediatrics
[3] University of Pittsburgh,Department of Oral Biology
[4] University of Pittsburgh,Department of Bioengineering
[5] University of Pittsburgh,Department of Anthropology
[6] University of Pittsburgh,Department of Orthodontics
来源
Genes & Genomics | 2017年 / 39卷
关键词
Rabbit; Type I collagen; Genome; Sequencing; Reference sequence;
D O I
暂无
中图分类号
学科分类号
摘要
Next generation sequencing technologies have accelerated the rate at which whole genome sequencing (WGS) data is acquired. The sheer volume of data generated by WGS requires computational annotation to define potential coding regions and chromosomal features. The accuracy of genomic annotation is thus limited by the power of the computational algorithm and the sequence coverage provided by the raw data. Sequencing of the New Zealand White (NZW) rabbit has been performed to a 7× depth of coverage, leaving large gaps in coverage and potential errors within the draft assembly. In the present study, we have resequenced the collagen type I, alpha 1 (Col1A1) gene of Oryctolagus cuniculus (n = 8). We have characterized the full length cDNA, identified splicing errors within the reference sequence, and identified single nucleotide polymorphisms within the gene. These data underscore the need for a higher resolution assembly of the rabbit genome to advance research in this important large animal model.
引用
收藏
页码:549 / 555
页数:6
相关论文
共 50 条
  • [21] Polymorphisms in the 5′ flank of COL1A1 gene and osteoporosis: meta-analysis of published studies
    Jin, H.
    Evangelou, E.
    Ioannidis, J. P. A.
    Ralston, S. H.
    OSTEOPOROSIS INTERNATIONAL, 2011, 22 (03) : 911 - 921
  • [22] NOVEL SPLICING MUTATION OF COL1A1 GENE CAUSING OSTEOGENESIS IMPERFECTA TYPE I IN CHINESE PEDIGREE
    吴晓林
    顾鸣敏
    崔兵
    李西华
    陆振虞
    王铸钢
    袁文涛
    宋怀东
    Journal of Shanghai Second Medical University(Foreign Language Edition), 2007, (01) : 8 - 11
  • [23] Association of MMP3 COL5A1 and COL1A1 gene polymorphisms with ACL geometric size in Chinese population
    Yao, Chen
    Zhu, Bowen
    Liu, Yubao
    Xu, Xingquan
    Yang, Xianfeng
    Xu, Zhihong
    Dai, Jin
    Chen, Dongyang
    Teng, Huajian
    Shi, Dongquan
    Jiang, Qing
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2017, 10 (02): : 1991 - 1997
  • [24] A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
    Peng, Hao
    Zhang, Yuhui
    Long, Zhigao
    Zhao, Ding
    Guo, Zhenxin
    Xue, Jinjie
    Xie, Zhiguo
    Xiong, Zhimin
    Xu, Xiaojuan
    Su, Wei
    Wang, Bing
    Xia, Kun
    Hu, Zhengmao
    GENE, 2012, 502 (02) : 168 - 171
  • [25] Pharmacogenetics of human sulfotransferase (SULT) 1C1: Gene cloning, resequencing and common single nucleotide polymorphisms (SNPs).
    Freimuth, RR
    Wood, TC
    Eckloff, B
    Wieben, E
    Weinshilboum, RM
    CLINICAL PHARMACOLOGY & THERAPEUTICS, 2000, 67 (02) : 140 - 140
  • [26] Identification of novel mutations in the COL1A1 gene.
    Kucinskas, V
    Benusiene, E
    Kasperaviciute, D
    Slibinskas, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 593 - 593
  • [27] The COL1A1 gene and acute soft tissue ruptures
    Collins, Malcolm
    Posthumus, Michael
    Schwellnus, Martin P.
    BRITISH JOURNAL OF SPORTS MEDICINE, 2010, 44 (14) : 1063 - 1064
  • [28] High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population
    Wang, Juan
    Wang, Panfeng
    Gao, Yang
    Li, Shiqiang
    Xiao, Xueshan
    Zhang, Qingjiong
    MOLECULAR MEDICINE REPORTS, 2012, 5 (01) : 133 - 137
  • [29] Mutations in COL1A1 Gene Change Dentin Nanostructure
    Duan, Xiaohong
    Liu, Zhenxia
    Gan, Yunna
    Xia, Dan
    Li, Qiang
    Li, Yanling
    Yang, Jiaji
    Gao, Shan
    Dong, Mingdong
    ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, 2016, 299 (04): : 511 - 519
  • [30] The COL1A1 gene and high myopia susceptibility in Japanese
    Yumiko Inamori
    Masao Ota
    Hidetoshi Inoko
    Eiichi Okada
    Ritsuko Nishizaki
    Tomoko Shiota
    Jeewon Mok
    Akira Oka
    Shigeaki Ohno
    Nobuhisa Mizuki
    Human Genetics, 2007, 122 : 151 - 157