Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
复制标题
核线粒体 DNA 片段类似于人类父系遗传的线粒体 DNA
DOI：
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发表时间：
2020
影响因子：
16.6
通讯作者：
P. Chinnery
中科院分区：
文献类型：
--
作者：
Wei Wei;A. Pagnamenta;Nicholas S. Gleadall;Alba Sanchis;J. Stephens;J. Broxholme;Salih Tuna;C. Odhams;J. C. E. L. M. F. J. M. C. R. M. J. G. C. C. E. H. L. Ambrose Baple Bleda Boardman;J. Ambrose;E. Baple;M. Bleda;F. Boardman;J. Boissiere;C. Boustred;M. Caulfield;G. Chan;C. Craig;L. Daugherty;A. de Burca;A. Devereau;G. Elgar;R. Foulger;T. Fowler;P. Furió;J. Hackett;D. Halai;J. Holman;T. Hubbard;R. Jackson;D. Kasperavičiūtė;M. Kayikci;L. Lahnstein;K. Lawson;S. Leigh;I. Leong;F. J. Lopez;F. Maleady;J. Mason;E. McDonagh;L. Moutsianas;M. Mueller;N. Murugaesu;A. Need;C. Odhams;C. Patch;D. Perez;D. Polychronopoulos;J. Pullinger;T. Rahim;A. Rendon;P. Riesgo;T. Rogers;M. Ryten;K. Savage;K. Sawant;R. Scott;A. Siddiq;A. Sieghart;D. Smedley;K. Smith;A. Sosinsky;W. Spooner;H. E. Stevens;A. Stuckey;R. Sultana;E. Thomas;S. Thompson;C. Tregidgo;A. Tucci;E. Walsh;S. Watters;M. Welland;E. Williams;K. Witkowska;S. Wood;M. Zarowiecki;Alba Jonathan Salih Ernest Patrick F. Sanchis;Salih Tuna;E. Turro;P. Chinnery;C. Fratter;E. Turro;M. Caulfield;Jenny C. Taylor;S. Rahman;P. Chinnery
一些证据质疑人类线粒体 DNA (mtDNA) 仅通过母系遗传的教条，最近在三个家庭中，其中几个个体具有与双亲遗传一致的“异质单倍型”。在这里，我们报告了 11,035 个三重体中的 7 个具有相似的遗传特征，等位基因比例为 5-25%，这意味着 0.06% 的后代具有 mtDNA 双亲遗传。然而，通过分析核全基因组序列，我们观察到在所有 7 个家庭中可能存在从父亲遗传的大量罕见或独特的核线粒体 DNA 片段 (mega-NUMT)。在 0.13% 的父亲中独立检测到大型 NUMT，我们发现单倍型的常染色体传递。最后，我们证明单倍型等位基因部分可以通过核基因组内重新排列的复杂串联 mtDNA 衍生序列来解释。我们得出的结论是，罕见的神秘巨型 NUMT 可能类似于父系 mtDNA 异质性，但没有发现人类 mtDNA 父系遗传的证据。最近的证据对人类线粒体 DNA (mtDNA) 严格母系传递的教条提出了质疑。魏等人。在 11,035 名人类三人组中没有发现 mtDNA 父系遗传的证据，并表明核线粒体片段 (NUMT) 可以给人 mtDNA 父系遗传的印象，但实际上是通过核基因组遗传的。
Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a ‘heteroplasmic haplotype’ consistent with biparental transmission. Here we report a similar genetic signature in 7 of 11,035 trios, with allelic fractions of 5–25%, implying biparental inheritance of mtDNA in 0.06% of offspring. However, analysing the nuclear whole genome sequence, we observe likely large rare or unique nuclear-mitochondrial DNA segments (mega-NUMTs) transmitted from the father in all 7 families. Independently detecting mega-NUMTs in 0.13% of fathers, we see autosomal transmission of the haplotype. Finally, we show the haplotype allele fraction can be explained by complex concatenated mtDNA-derived sequences rearranged within the nuclear genome. We conclude that rare cryptic mega-NUMTs can resemble paternally mtDNA heteroplasmy, but find no evidence of paternal transmission of mtDNA in humans. Recent evidence has questioned the dogma of strict maternal transmission of mitochondrial DNA (mtDNA) in humans. Wei et al. saw no evidence of paternal transmission of mtDNA in 11,035 human trios, and show that nuclear-mitochondrial segments (NUMTs) can give the impression of paternal mtDNA transmission, but are actually inherited through the nuclear genome.
国家医疗保健系统中罕见疾病患者的全基因组测序
DOI：
10.1101/507244
发表时间：
2019
期刊：
--
影响因子：
--
作者：
Ouwehand W
通讯作者：
Ouwehand W
影响因子：
9.8
作者：
Jun, Goo;Flickinger, Matthew;Kang, Hyun Min
通讯作者：
Kang, Hyun Min