Original paper

Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees

Volume: 116, Issue: 50, Pages: 25172 - 25178
Published: Nov 22, 2019
Abstract
Heteroplasmy—the presence of multiple mitochondrial DNA (mtDNA) haplotypes in an individual—can lead to numerous mitochondrial diseases. The presentation of such diseases depends on the frequency of the heteroplasmic variant in tissues, which, in turn, depends on the dynamics of mtDNA transmissions during germline and somatic development. Thus, understanding and predicting these dynamics between generations and within individuals is medically...
Paper Details
Title
Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees
Published Date
Nov 22, 2019
Volume
116
Issue
50
Pages
25172 - 25178
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