Journal
NATURE REVIEWS GENETICS
Volume 10, Issue 7, Pages 478-488Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2529
Keywords
-
Categories
Funding
- NIGMS NIH HHS [R01 GM036745-23, R01 GM036745] Funding Source: Medline
Ask authors/readers for more resources
Surprising findings about human germline mutation have come from applying new technologies to detect rare mutations in germline DNA, from analysing DNA sequence divergence between humans and closely related species, and from investigating human polymorphic variation. In this Review we discuss how these approaches affect our current understanding of the roles of sex, age, mutation hot spots, germline selection and genomic factors in determining human nucleotide substitution mutation patterns and frequencies. To enhance our understanding of mutation and disease, more extensive molecular data on the human germ line with regard to mutation origin, DNA repair, epigenetic status and the effect of newly arisen mutations on gamete development are needed.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available