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印度老虎近亲繁殖衰退及有害基因变异清除的基因组证据。

Genomic evidence for inbreeding depression and purging of deleterious genetic variation in Indian tigers.

作者信息

Khan Anubhab, Patel Kaushalkumar, Shukla Harsh, Viswanathan Ashwin, van der Valk Tom, Borthakur Udayan, Nigam Parag, Zachariah Arun, Jhala Yadavendradev V, Kardos Marty, Ramakrishnan Uma

机构信息

National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore 560065, India;

National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore 560065, India.

出版信息

Proc Natl Acad Sci U S A. 2021 Dec 7;118(49). doi: 10.1073/pnas.2023018118.

Abstract

Increasing habitat fragmentation leads to wild populations becoming small, isolated, and threatened by inbreeding depression. However, small populations may be able to purge recessive deleterious alleles as they become expressed in homozygotes, thus reducing inbreeding depression and increasing population viability. We used whole-genome sequences from 57 tigers to estimate individual inbreeding and mutation load in a small-isolated and two large-connected populations in India. As expected, the small-isolated population had substantially higher average genomic inbreeding ( = 0.57) than the large-connected ( = 0.35 and = 0.46) populations. The small-isolated population had the lowest loss-of-function mutation load, likely due to purging of highly deleterious recessive mutations. The large populations had lower missense mutation loads than the small-isolated population, but were not identical, possibly due to different demographic histories. While the number of the loss-of-function alleles in the small-isolated population was lower, these alleles were at higher frequencies and homozygosity than in the large populations. Together, our data and analyses provide evidence of 1) high mutation load, 2) purging, and 3) the highest predicted inbreeding depression, despite purging, in the small-isolated population. Frequency distributions of damaging and neutral alleles uncover genomic evidence that purifying selection has removed part of the mutation load across Indian tiger populations. These results provide genomic evidence for purifying selection in both small and large populations, but also suggest that the remaining deleterious alleles may have inbreeding-associated fitness costs. We suggest that genetic rescue from sources selected based on genome-wide differentiation could offset any possible impacts of inbreeding depression.

摘要

栖息地破碎化加剧导致野生种群数量减少、彼此隔离,并受到近亲繁殖衰退的威胁。然而,小种群可能能够清除隐性有害等位基因,因为这些等位基因在纯合子中得以表达,从而减轻近亲繁殖衰退并提高种群生存力。我们利用57只老虎的全基因组序列,估算了印度一个小隔离种群和两个大连接种群中的个体近亲繁殖程度和突变负荷。正如预期的那样,小隔离种群的平均基因组近亲繁殖程度( = 0.57)显著高于大连接种群( = 0.35和 = 0.46)。小隔离种群的功能丧失突变负荷最低,这可能是由于清除了高度有害的隐性突变。大种群的错义突变负荷低于小隔离种群,但并不相同,这可能是由于不同的种群历史所致。虽然小隔离种群中功能丧失等位基因的数量较少,但这些等位基因在频率和纯合性方面均高于大种群。总之,我们的数据和分析提供了以下证据:1)小隔离种群中存在高突变负荷;2)存在清除现象;3)尽管有清除现象,但小隔离种群中预测的近亲繁殖衰退程度最高。有害等位基因和中性等位基因的频率分布揭示了基因组证据,表明净化选择已消除了印度老虎种群中的部分突变负荷。这些结果为大小种群中的净化选择提供了基因组证据,但也表明剩余的有害等位基因可能存在与近亲繁殖相关的适合度成本。我们建议,基于全基因组分化选择来源进行遗传拯救,可以抵消近亲繁殖衰退可能产生的任何影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd5f/8670471/5ab31fd3f08e/pnas.202023018fig01.jpg

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