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Title: The mutation rate of the human mtDNA deletion mtDNA{sup 4977}

Abstract

The human mitochondrial mutation mtDNA{sup 4977} is a 4,977-bp deletion that originates between two 13-bp direct repeats. We grew 220 colonies of cells, each from a single human cell. For each colony, we counted the number of cells and amplified the DNA by PCR to test for the presence of a deletion. To estimate the mutation rate, we used a model that describes the relationship between the mutation rate and the probability that a colony of a given size will contain no mutants, taking into account such factors as possible mitochondrial turnover and mistyping due to PCR error. We estimate that the mutation rate for mtDNA{sup 4977} in cultured human cells is 5.95 x 10{sup {minus}8} per mitochondrial genome replication. This method can be applied to specific chromosomal, as well as mitochondrial, mutations. 17 refs., 1 fig., 1 tab.

Authors:
 [1];  [2];  [3]
  1. Univ. of Colorado Health Science Center, Denver, CO (United States)
  2. Colorado School of Mines, Golden, CO (United States)
  3. Univ. of California, Los Angeles, CA (United States); and others
Publication Date:
OSTI Identifier:
476747
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 59; Journal Issue: 4; Other Information: PBD: Oct 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; MUTATION FREQUENCY; STATISTICAL MODELS; MITOCHONDRIA; MUTATIONS; DNA; DNA REPLICATION; DNA-CLONING; DNA SEQUENCING; NUCLEOTIDES; POLYMERASE CHAIN REACTION; FIBROBLASTS; DNA HYBRIDIZATION

Citation Formats

Shenkar, R, Navidi, W, and Tavare, S. The mutation rate of the human mtDNA deletion mtDNA{sup 4977}. United States: N. p., 1996. Web.
Shenkar, R, Navidi, W, & Tavare, S. The mutation rate of the human mtDNA deletion mtDNA{sup 4977}. United States.
Shenkar, R, Navidi, W, and Tavare, S. 1996. "The mutation rate of the human mtDNA deletion mtDNA{sup 4977}". United States.
@article{osti_476747,
title = {The mutation rate of the human mtDNA deletion mtDNA{sup 4977}},
author = {Shenkar, R and Navidi, W and Tavare, S},
abstractNote = {The human mitochondrial mutation mtDNA{sup 4977} is a 4,977-bp deletion that originates between two 13-bp direct repeats. We grew 220 colonies of cells, each from a single human cell. For each colony, we counted the number of cells and amplified the DNA by PCR to test for the presence of a deletion. To estimate the mutation rate, we used a model that describes the relationship between the mutation rate and the probability that a colony of a given size will contain no mutants, taking into account such factors as possible mitochondrial turnover and mistyping due to PCR error. We estimate that the mutation rate for mtDNA{sup 4977} in cultured human cells is 5.95 x 10{sup {minus}8} per mitochondrial genome replication. This method can be applied to specific chromosomal, as well as mitochondrial, mutations. 17 refs., 1 fig., 1 tab.},
doi = {},
url = {https://www.osti.gov/biblio/476747}, journal = {American Journal of Human Genetics},
number = 4,
volume = 59,
place = {United States},
year = {Tue Oct 01 00:00:00 EDT 1996},
month = {Tue Oct 01 00:00:00 EDT 1996}
}