Direct estimate of the spontaneous germ line mutation rate in African green monkeys

Evolution ◽  
2017 ◽  
Vol 71 (12) ◽  
pp. 2858-2870 ◽  
Author(s):  
Susanne P. Pfeifer
Keyword(s):  
Mutation Rate ◽  
Germ Line ◽  
Direct Estimate ◽  
Germ Line Mutation ◽  
Green Monkeys

piRNA-mediated transposon regulation and the germ-line mutation rate in Drosophila melanogaster males

2015 ◽  
Vol 773 ◽  
pp. 16-21 ◽  
Author(s):  
Michael J. Simmons ◽  
Mark P. Peterson ◽  
Michael W. Thorp ◽  
Jared T. Buschette ◽  
Stephanie N. DiPrima ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
Mutation Rate ◽  
Germ Line ◽  
Germ Line Mutation

scholarly journals Difference between Evolutionarily Effective and Germ line Mutation Rate Due to Stochastically Varying Haplogroup Size

2006 ◽  
Vol 23 (12) ◽  
pp. 2268-2270 ◽  
Author(s):  
L. A. Zhivotovsky ◽  
P. A. Underhill ◽  
M. W. Feldman
Keyword(s):  
Mutation Rate ◽  
Germ Line ◽  
Germ Line Mutation

scholarly journals Exceptional Chemotherapy Response in Metastatic Colorectal Cancer Associated With Hyper-Indel–Hypermutated Cancer Genome and Comutation of POLD1 and MLH1

2017 ◽  
pp. 1-12
Author(s):  
Manish R. Sharma ◽  
James T. Auman ◽  
Nirali M. Patel ◽  
Juneko E. Grilley-Olson ◽  
Xiaobei Zhao ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Somatic Mutation ◽  
Mutation Rate ◽  
Germ Line ◽  
Cancer Genome ◽  
The Cancer Genome Atlas ◽  
Response To Chemotherapy ◽  
Cancer Genome Atlas ◽  
Genome Atlas

Purpose A 73-year-old woman with metastatic colon cancer experienced a complete response to chemotherapy with dose-intensified irinotecan that has been durable for 5 years. We sequenced her tumor and germ line DNA and looked for similar patterns in publicly available genomic data from patients with colorectal cancer. Patients and Methods Tumor DNA was obtained from a biopsy before therapy, and germ line DNA was obtained from blood. Tumor and germline DNA were sequenced using a commercial panel with approximately 250 genes. Whole-genome amplification and exome sequencing were performed for POLE and POLD1. A POLD1 mutation was confirmed by Sanger sequencing. The somatic mutation and clinical annotation data files from the colon (n = 461) and rectal (n = 171) adenocarcinoma data sets were downloaded from The Cancer Genome Atlas data portal and analyzed for patterns of mutations and clinical outcomes in patients with POLE- and/or POLD1-mutated tumors. Results The pattern of alterations included APC biallelic inactivation and microsatellite instability high (MSI-H) phenotype, with somatic inactivation of MLH1 and hypermutation (estimated mutation rate > 200 per megabase). The extremely high mutation rate led us to investigate additional mechanisms for hypermutation, including loss of function of POLE. POLE was unaltered, but a related gene not typically associated with somatic mutation in colon cancer, POLD1, had a somatic mutation c.2171G>A [p.Gly724Glu]. Additionally, we noted that the high mutation rate was largely composed of dinucleotide deletions. A similar pattern of hypermutation (dinucleotide deletions, POLD1 mutations, MSI-H) was found in tumors from The Cancer Genome Atlas. Conclusion POLD1 mutation with associated MSI-H and hyper-indel–hypermutated cancer genome characterizes a previously unrecognized variant of colon cancer that was found in this patient with an exceptional response to chemotherapy.

scholarly journals Germ-line Mutation Analysis in Patients with von Hippel-Lindau Disease in Japan: An Extended Study of 77 Families

2000 ◽  
Vol 91 (2) ◽  
pp. 204-212 ◽  
Author(s):  
Minoru Yoshida ◽  
Shingo Ashida ◽  
Keiichi Kondo ◽  
Kazuki Kobayashi ◽  
Hiroshi Kanno ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Germ Line ◽  
Extended Study ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Germ Line Mutation

scholarly journals Stage specificity, dose response, and doubling dose for mouse minisatellite germ-line mutation induced by acute radiation

1998 ◽  
Vol 95 (11) ◽  
pp. 6251-6255 ◽  
Author(s):  
Y. E. Dubrova ◽  
M. Plumb ◽  
J. Brown ◽  
J. Fennelly ◽  
P. Bois ◽  
...  
Keyword(s):  
Dose Response ◽  
Germ Line ◽  
Acute Radiation ◽  
Doubling Dose ◽  
Stage Specificity ◽  
Germ Line Mutation

scholarly journals Direct estimate of the spontaneous mutation rate uncovers the effects of drift and recombination in theChlamydomonas reinhardtiiplastid genome

2015 ◽  
Author(s):  
Rob W Ness ◽  
Susanne A Kraemer ◽  
Nick Colegrave ◽  
Peter D Keightley
Keyword(s):  
Mutation Rate ◽  
Genetic Drift ◽  
Plastid Genome ◽  
De Novo ◽  
Spontaneous Mutation ◽  
Genome Structure ◽  
Nuclear Genome ◽  
De Novo Mutation ◽  
Direct Estimate ◽  
Plastid Genomes

Plastids perform crucial cellular functions, including photosynthesis, across a wide variety of eukaryotes. Since endosymbiosis, plastids have maintained independent genomes that now display a wide diversity of gene content, genome structure, gene regulation mechanisms, and transmission modes. The evolution of plastid genomes depends on an input ofde novomutation, but our knowledge of mutation in the plastid is limited to indirect inference from patterns of DNA divergence between species. Here, we use a mutation accumulation experiment, where selection acting on mutations is rendered ineffective, combined with whole-plastid genome sequencing to directly characterize de novo mutation inChlamydomonas reinhardtii. We show that the mutation rates of the plastid and nuclear genomes are similar, but that the base spectra of mutations differ significantly. We integrate our measure of the mutation rate with a population genomic dataset of 20 individuals, and show that the plastid genome is subject to substantially stronger genetic drift than the nuclear genome. We also show that high levels of linkage disequilibrium in the plastid genome are not due to restricted recombination, but are instead a consequence of increased genetic drift. One likely explanation for increased drift in the plastid genome is that there are stronger effects of genetic hitchhiking. The presence of recombination in the plastid is consistent with laboratory studies inC. reinhardtiiand demonstrates that although the plastid genome is thought to be uniparentally inherited, it recombines in nature at a rate similar to the nuclear genome.

The genetics of inherited cancers

2010 ◽  
pp. 358-371
Author(s):  
Rosalind A. Eeles
Keyword(s):  
Somatic Cell ◽  
Cancer Cell ◽  
Germ Line ◽  
Cancer Predisposition ◽  
Cellular Growth ◽  
Germ Line Mutation ◽  
Cancer Predisposition Gene

All cancer can be termed ‘genetic’ as cancer is caused by somatic cell mutations (alterations in the DNA code), which result in abnormal cellular growth and/or proliferation. Most of these mutations are sporadic (only occurring in the cancer cell), but some are due to the inheritance of a germ-line mutation in a cancer predisposition gene....

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