Cernunnos, a novelnonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Article Abstract:

Failure to properly repair DSBs result in genetic instability, developmental delay, and various forms of immunodeficiency is characterized by a profound T+B lymphcytopenia. An increased cellular sensitivity to ionizing radiation, a defective V(D)J recombination, and an impaired DNA-end ligation process both in vivo and in vitro are indicative of a general DNA repair defect in the patients.

Italy, Germany, Science & research, Biological Product (except Diagnostic) Manufacturing, Drugs, Deoxyribonucleic Acid, Research, DNA, Microcephaly

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Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune defeciency

Article Abstract:

Research has been conducted on the variable, diversity, joining gene segments expressed by a mechanism known as V(D)J recombination. The cloning of the gene Artemis which encodes a protein involved in the V(D)J recombination /DNA repair has been carried out and the results of the protein sequence analysis suggest that this gene belongs to the metallo-beta-lactamase superfamily.

Statistical Data Included, Analysis, Physiological aspects, Gene mutations, Gene mutation, Genetic aspects, Cell research, Cytological research, Beta lactamases, Amino acid sequence, Amino acid sequencing

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