Cropley JE, Martin DI, Suter CM (2008) Germline epimutations in humans. Pharmacogenomics 9:1861–1868 View ArticleGermline epimutation in humans[J] . Jennifer E Cropley,David IK Martin,Catherine M Suter.Pharmacogenomics . 2008 (12)Cropley JE, Martin DI, Suter CM. 2008. Germline epimutation ...
Germline mutations in the mouse quartet were verified using Sanger sequencing, which confirmed 75% of the mutations called (Supplementary Table 3). In humans, the frequency of germline mutations observed in the different trios was, on average, 1.2 Â 10 À 8 mutations per base pair (bp),...
During early embryonic development, first emerged germline cells are called primordial germ cells (PGCs).12The PGCs are the founder cells of the germline, to some extent, also the source of germline totipotency, ensuring the creation of new organisms.13In humans, when, where, and how first PG...
mutations occur in isolated cells later in development. All cells that subsequently develop from that mutated cell will carry the mutation. In contrast with germline mutations, most somatic mutations are not passed on to offspring because they do not occur in germ cells. One notable exception that...
Unlike the disease site, similar analysis of C-to-G mutations at a control nucleotide site in one testis pair failed to find any foci with high mutation frequencies. The rejection of the hot spot model and lack of rejection of a selection model for the C755G mutation, along with other ...
Mutation at the human minisatellites MS32, MS205 and MS31A has been investigated by characterizing mutant alleles in pedigrees and in the case of MS32 by direct analysis of mutant molecules in single sperm. Most mutations at all three loci are polar, involving the preferential gain of a few...
Increased sequence diversity and linkage disequilibrium of C>G variants within regions affected by excess maternal mutations indicate that the underlying mutational process has persisted in humans for thousands of years. Moreover, the regional excess of C>G variation in humans is largely shared by ...
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Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. Th...
Whole genome sequencing (WGS) studies have estimated the human germline mutation rate per basepair per generation (~1.2 × 10−8) to be higher than in mice (3.5–5.4 × 10−9). In humans, most germline mutations are paternal in origin and