Variation in genome-wide mutation rates within and between human families

Conrad, Donald F., Keebler, Jonathan E. M., DePristo, Mark A., Lindsay, Sarah J., Zhang, Yujun, Casals, Ferran, Idaghdour, Youssef, Hartl, Chris L., Torroja, Carlos, Garimella, Kiran V., Zilversmit, Martine, Cartwright, Reed, Rouleau, Guy A., Daly, Mark, Stone, Eric A., Hurles, Matthew E., Awadalla, Philip, 1000 Genomes Project and Li, Yingrui (2011) Variation in genome-wide mutation rates within and between human families. Nature Genetics, 43 7: 712-714. doi:10.1038/ng.862

Author Conrad, Donald F.
Keebler, Jonathan E. M.
DePristo, Mark A.
Lindsay, Sarah J.
Zhang, Yujun
Casals, Ferran
Idaghdour, Youssef
Hartl, Chris L.
Torroja, Carlos
Garimella, Kiran V.
Zilversmit, Martine
Cartwright, Reed
Rouleau, Guy A.
Daly, Mark
Stone, Eric A.
Hurles, Matthew E.
Awadalla, Philip
1000 Genomes Project
Li, Yingrui
Title Variation in genome-wide mutation rates within and between human families
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2011-07-01
Sub-type Article (original research)
DOI 10.1038/ng.862
Open Access Status Not yet assessed
Volume 43
Issue 7
Start page 712
End page 714
Total pages 3
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Formatted abstract
J.B.S. Haldane proposed in 1947 that the male germline may be more mutagenic than the female germline. Diverse studies have supported Haldane's contention of a higher average mutation rate in the male germline in a variety of mammals, including humans. Here we present, to our knowledge, the first direct comparative analysis of male and female germline mutation rates from the complete genome sequences of two parent-offspring trios. Through extensive validation, we identified 49 and 35 germline de novo mutations (DNMs) in two trio offspring, as well as 1,586 non-germline DNMs arising either somatically or in the cell lines from which the DNA was derived. Most strikingly, in one family, we observed that 92% of germline DNMs were from the paternal germline, whereas, in contrast, in the other family, 64% of DNMs were from the maternal germline. These observations suggest considerable variation in mutation rates within and between families.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 269 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 274 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Thu, 03 Sep 2015, 20:48:03 EST by System User on behalf of Scholarly Communication and Digitisation Service