Abstract

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.

Author affiliations

1. Molecular and Computational Biology Program, University of Southern California, 1050 Childs Way, Los Angeles, California 90089–2910, USA.
   Email: arnheim@usc.edu
   Email: petercal@usc.edu

MORE ARTICLES LIKE THIS

These links to content published by NPG are automatically generated.