Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

ABSTRACT: Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency genes, such as BTK, but for unknown reasons the IGHM and DCLRE1C (Artemis) gene defects frequently represent gross deletions ( approximately 60%). We characterized the gross deletion breakpoints in IGHM-, BTK-, and Artemis-deficient patients. The IGHM deletion breakpoints did not show involvement of recombination signal sequences or immunoglobulin switch regions. Instead, five IGHM, eight BTK, and five unique Artemis breakpoints were located in or near sequences derived from transposable elements (TE). The breakpoints of four out of five disrupted Artemis alleles were located

SUBMITTER: van Zelm MC 

PROVIDER: S-EPMC2427306 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature