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Histone H2AX definition: Encoded by human H2AX Gene (H2A Family) and expressed unlinked to replication in G1 and S-phase, 142-aa basal Histone H2AX has a unique conserved C-terminal sequence, QASQEY. NBS1/phospho-H2AX (gamma-H2AX) associate with irradiation-induced and V(D)J-induced DNA double-strand breaks. In pre-thymocytes, NBS1/gamma-H2AX form at RAG1-mediated TCRA V(D)J cleavage sites. NBS1/gamma-H2AX facilitate AID-dependent DNA break repair in G1 cells undergoing Ig heavy-chain constant region class switch recombination. (from LocusLink, Swiss-Prot, OMIM, and NCI)
Histone H2AX definition: Histone H2AX is a non-allelic variant of histone H2A, involved in nucleosomal organization of chromatin. H2AX (or H2A.X) comprises about 11% of the total H2A. Synthesis of H2AX is not linked to DNA replication.
H2AFX Gene definition: This gene is involved in histone and nucleosome organization and chromatin compaction regulation.
H2AFX wt Allele definition: Human H2AFX wild-type allele is located within 11q23.2-q23.3 and is approximately 2 kb in length. This allele, which encodes histone H2A.x protein, is involved in the modulation of transcription, DNA replication and chromosomal stability. The allele may play a role in the regulation of both immunoglobulin class switch recombination and DNA double strand break repair.