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基于两只玛士撒拉犬全基因组序列数据对长寿遗传背景的初步研究。

A Preliminary Study to Investigate the Genetic Background of Longevity Based on Whole-Genome Sequence Data of Two Methuselah Dogs.

作者信息

Jónás Dávid, Sándor Sára, Tátrai Kitti, Egyed Balázs, Kubinyi Enikö

机构信息

Department of Ethology, ELTE Eötvös Loránd University, Budapest, Hungary.

Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary.

出版信息

Front Genet. 2020 Apr 16;11:315. doi: 10.3389/fgene.2020.00315. eCollection 2020.

Abstract

Aging is the largest risk factor in many diseases and mortality alike. As the elderly population is expected to increase at an accelerating rate in the future, these phenomena will pose a growing socio-economic burden on societies. To successfully cope with this challenge, a deeper understanding of aging is crucial. In many aspects, the companion dog is an increasingly popular model organism to study aging, with the promise of producing results that are more applicable to humans than the findings that come from the studies of classical model organisms. In this preliminary study we used the whole-genome sequence of two extremely old dogs - age: 22 and 27 years (or 90-135% more, than the average lifespan of dogs) - in order to make the first steps to understand the genetic background of extreme longevity in dogs. We identified more than ∼80 1000 novel SNPs in the two dogs (7500 of which overlapped between them) when compared to three publicly available canine SNP databases, which included SNP information from850 dogs. Most novel mutations (∼52000 SNPs) were identified at non-coding regions, while 4.6% of the remaining SNPs (n∼1600) were at exons, including 670 missense variants - 76 of which overlapped between the two animals - across 472 genes. Based on their gene ontologies, these genes were related - among others - to gene transcription/translation and its regulation, to immune response and the nervous system in general. We also detected 12 loss-of-function mutations, although their actual effect is unclear. Several genetic pathways were also identified, which pathways may be tempting candidates to be investigated in large sample sizes in order to confirm their relevance in extreme longevity in dogs (and possibly, in humans). We hypothesize a possible link between extreme longevity and the regulation of gene transcription/translation, which hypothesis should be further investigated in the future. This phenomenon could define an interesting direction for future research aiming to better understand longevity. The presented preliminary results highlight the utility of the companion dog in the study of the genetic background of longevity and aging.

摘要

衰老在许多疾病及死亡率方面都是最大的风险因素。鉴于预计未来老年人口将加速增长,这些现象将给社会带来日益沉重的社会经济负担。为成功应对这一挑战,深入了解衰老至关重要。在许多方面,宠物狗正日益成为研究衰老的热门模式生物,有望产生比经典模式生物研究结果更适用于人类的成果。在这项初步研究中,我们使用了两只年龄极大的狗(分别为22岁和27岁,比狗的平均寿命长90 - 135%)的全基因组序列,以便初步了解狗极端长寿的遗传背景。与三个公开的犬类单核苷酸多态性(SNP)数据库(其中包含850只狗的SNP信息)相比,我们在这两只狗中鉴定出了超过80,100个新的SNP(其中7500个在它们之间重叠)。大多数新突变(约52,000个SNP)在非编码区被鉴定出来,而其余SNP中的4.6%(约1600个)在外显子上,包括472个基因中的670个错义变体——其中76个在两只动物之间重叠。基于它们的基因本体论,这些基因尤其与基因转录/翻译及其调控、免疫反应和整个神经系统相关。我们还检测到12个功能丧失突变,尽管其实际影响尚不清楚。还鉴定出了几条遗传途径,这些途径可能是值得在大样本中进行研究的诱人候选对象,以确认它们与狗(可能还有人类)极端长寿的相关性。我们推测极端长寿与基因转录/翻译调控之间可能存在联系,这一假设未来应进一步研究。这一现象可为旨在更好理解长寿的未来研究确定一个有趣的方向。所呈现的初步结果凸显了宠物狗在长寿和衰老遗传背景研究中的效用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/795b/7176982/5600697f6928/fgene-11-00315-g001.jpg

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