Genomics

Dataset Information

59

Homo sapiens


ABSTRACT: B cell subsets from human tonsil and blood

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA111069 | ENA |

REPOSITORIES: ENA

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Publications

Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting.

Longo Nancy S NS   Lugar Patricia L PL   Yavuz Sule S   Zhang Wen W   Krijger Peter H L PH   Russ Daniel E DE   Jima Dereje D DD   Dave Sandeep S SS   Grammer Amrie C AC   Lipsky Peter E PE  

Blood 20081120 16


Subjects with X-linked hyper-IgM syndrome (X-HIgM) have a markedly reduced frequency of CD27(+) memory B cells, and their Ig genes have a low level of somatic hypermutation (SHM). To analyze the nature of SHM in X-HIgM, we sequenced 209 nonproductive and 926 productive Ig heavy chain genes. In nonproductive rearrangements that were not subjected to selection, as well as productive rearrangements, most of the mutations were within targeted RGYW, WRCY, WA, or TW motifs (R = purine, Y = pyrimidine,  ...[more]

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