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<b><i>Dataset of </i></b><b><i>‘</i></b><b>Identification of nonsense variants predicted to be harmful in the genomes of 15 Murciano-Granadina bucks and analysis of their segregation in parent-offspring trios</b><b><i>’</i></b>

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Figshare2024-09-13 更新2026-04-08 收录
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Amongst deleterious variants, stop gain variants are of particular importance because they are relatively abundant and inactivate protein function by inducing either the premature cessation of translation or nonsense mediated decay of the corresponding transcript. In this work, we have sequenced the genomes of 15 Murciano-Granadina bucks with the aim of identifying stop gain mutations and investigating their allele frequencies, genomic distribution and predicted phenotypic effect based on Mouse Genome Informatics and Online Mendelian Inheritance in Man database annotations. Moreover, we aimed to assess whether stop gain mutations predicted to have harmful effects on protein function and fitness, and especially those associated with lethality in knockout mice, show and altered pattern of transmission from parents to offspring. To achieve this goal, we have genotyped a selected set of stop gain mutations in 276 buck-dam-offspring trios and we have investigated if any of them displays a significant depletion of Stop/Stop homozygous genotypes.

提供机构:
Wang, Kerr
创建时间:
2023-11-20
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