scholarly journals Studies of human mutation rates. Progress report, November 1, 1993--October 31, 1994

1994 ◽  
Author(s):  
J.V. Neel ◽  
S.M. Hanash





1972 ◽  
Vol 16 (1-2) ◽  
pp. 43-48 ◽  
Author(s):  
P. Propping


Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 1104-1104 ◽  
Author(s):  
James V. Neel




2016 ◽  
Author(s):  
Kelley Harris ◽  
Jonathan K. Pritchard

AbstractDNA is a remarkably precise medium for copying and storing biological information. This high fidelity results from the action of hundreds of genes involved in replication, proofreading, and damage repair. Evolutionary theory suggests that in such a system, selection has limited ability to remove genetic variants that change mutation rates by small amounts or in specific sequence contexts. Consistent with this, using SNV variation as a proxy for mutational input, we report here that mutational spectra differ substantially among species, human continental groups and even some closely-related populations. Close examination of one signal, an increased TCC→TTC mutation rate in Europeans, indicates a burst of mutations from about 15,000 to 2,000 years ago, perhaps due to the appearance, drift, and ultimate elimination of a genetic modifier of mutation rate. Our results suggest that mutation rates can evolve markedly over short evolutionary timescales and suggest the possibility of mapping mutational modifiers.



1990 ◽  
Author(s):  
J V Neel




Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 860-863 ◽  
Author(s):  
Mortimer L. Mendelsohn

Potential methods are reviewed for estimating human heritable mutation rates by comparing the DNA of parents and offspring. In the 4 years since the Alta Workshop on this subject, information has accumulated on several of the six methods detailed in that meeting. Some of the methods now appear to be infeasible, and all continue to be too inefficient for practical implementation. Newer DNA approaches are discussed, including several that could become practical enough for implementation. Finally, DNA-oriented methods using human sperm are considered as possible alternatives to the heritable approaches.Key words: human heritable mutation, human mutation rate, DNA method – DNA technology, radiation.



Nature ◽  
1978 ◽  
Vol 274 (5674) ◽  
pp. 845-846 ◽  
Author(s):  
J. H. Edwards


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