常用近交系大鼠品系之间以及品系内部编码区的遗传变异。

Genetic variation in coding regions between and within commonly used inbred rat strains.

作者信息

Smits Bart M G, van Zutphen Bert F M, Plasterk Ronald H A, Cuppen Edwin

机构信息

Hubrecht Laboratory, The Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

出版信息

Genome Res. 2004 Jul;14(7):1285-90. doi: 10.1101/gr.2155004.

Abstract

Single nucleotide polymorphisms (SNPs) are the most common genetic variation in mammalian populations. Their significance is illustrated by their potential contribution to common disease but also by their potential for use in genetic association and mapping experiments. We have examined the genetic variation between commonly used inbred rat strains by using an efficient SNP discovery and typing assay based on enzyme-based (CEL I) heteroduplex cleavage. Screening of a panel of 96 different rat (sub-)strains for 100 genomic loci in 55 genes, whose human homologs are implicated in clinically relevant diseases like neurological disorder, cancer, schizophrenia, and obesity, resulted in the identification of 103 novel polymorphisms. As all strains are simultaneously genotyped in this setup, this allowed us to make an estimate of the genetic variation between and within commonly used rat inbred strains. Interestingly, we observed substantial genetic variation between colonies of the same inbred strain, maintained at different locations. Furthermore, we identified 17 non-synonymous SNPs that may have an effect on protein function and contribute to phenotypic differences between different laboratory strains.

摘要

单核苷酸多态性(SNPs)是哺乳动物群体中最常见的遗传变异。它们的重要性不仅体现在对常见疾病的潜在贡献上,还体现在其在基因关联和定位实验中的应用潜力上。我们通过基于酶(CEL I)异源双链切割的高效SNP发现和分型检测方法,研究了常用近交系大鼠品系之间的遗传变异。对一组96个不同大鼠(亚)品系的55个基因中的100个基因组位点进行筛选,这些基因的人类同源物与神经疾病、癌症、精神分裂症和肥胖等临床相关疾病有关,结果鉴定出103个新的多态性。由于在此设置中所有品系同时进行基因分型,这使我们能够估计常用大鼠近交系之间以及内部的遗传变异。有趣的是,我们观察到同一近交系保存在不同地点的群体之间存在显著的遗传变异。此外,我们鉴定出17个非同义SNP,它们可能对蛋白质功能有影响,并导致不同实验室品系之间的表型差异。

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