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对非洲爪蟾基因组中多态性的频率和分布的比较调查。

A comparative survey of the frequency and distribution of polymorphism in the genome of Xenopus tropicalis.

机构信息

UNC McAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.

出版信息

PLoS One. 2011;6(8):e22392. doi: 10.1371/journal.pone.0022392. Epub 2011 Aug 4.

Abstract

Naturally occurring DNA sequence variation within a species underlies evolutionary adaptation and can give rise to phenotypic changes that provide novel insight into biological questions. This variation exists in laboratory populations just as in wild populations and, in addition to being a source of useful alleles for genetic studies, can impact efforts to identify induced mutations in sequence-based genetic screens. The Western clawed frog Xenopus tropicalis (X. tropicalis) has been adopted as a model system for studying the genetic control of embryonic development and a variety of other areas of research. Its diploid genome has been extensively sequenced and efforts are underway to isolate mutants by phenotype- and genotype-based approaches. Here, we describe a study of genetic polymorphism in laboratory strains of X. tropicalis. Polymorphism was detected in the coding and non-coding regions of developmental genes distributed widely across the genome. Laboratory strains exhibit unexpectedly high frequencies of genetic polymorphism, with alleles carrying a variety of synonymous and non-synonymous codon substitutions and nucleotide insertions/deletions. Inter-strain comparisons of polymorphism uncover a high proportion of shared alleles between Nigerian and Ivory Coast strains, in spite of their distinct geographical origins. These observations will likely influence the design of future sequence-based mutation screens, particularly those using DNA mismatch-based detection methods which can be disrupted by the presence of naturally occurring sequence variants. The existence of a significant reservoir of alleles also suggests that existing laboratory stocks may be a useful source of novel alleles for mapping and functional studies.

摘要

物种内自然发生的 DNA 序列变异是进化适应的基础,并可能导致表型变化,为生物学问题提供新的见解。这种变异不仅存在于野生种群中,也存在于实验室种群中,除了是遗传研究中有用等位基因的来源外,还可能影响基于序列的遗传筛选中诱导突变的识别。西部爪蟾 Xenopus tropicalis(X. tropicalis)已被用作研究胚胎发育遗传控制和其他各种研究领域的模型系统。它的二倍体基因组已经被广泛测序,并且正在通过表型和基因型方法来分离突变体。在这里,我们描述了对实验室培养的 X. tropicalis 品系遗传多态性的研究。在分布广泛的基因组编码和非编码区域检测到多态性。实验室菌株表现出出人意料的高遗传多态性频率,具有携带各种同义和非同义密码子替换和核苷酸插入/缺失的等位基因。多态性的种间比较揭示了尼日利亚和象牙海岸菌株之间存在大量共享等位基因,尽管它们的地理起源不同。这些观察结果可能会影响未来基于序列的突变筛选的设计,特别是那些使用基于 DNA 错配的检测方法的筛选,因为这些方法可能会受到自然发生的序列变异的干扰。大量等位基因的存在也表明,现有的实验室品系可能是用于图谱和功能研究的新型等位基因的有用来源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56df/3150332/47c62ecf7430/pone.0022392.g001.jpg

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