Protein Description Both isoforms are approximately 80 kDa. Isoform 1 includes amino acids; isoform 2 includes Molecular studies of Mre11 typically do not distinguish between the different isoforms.
Expression All tissues examined, with higher levels in proliferating tissues. Function Mre11 participates in the repair of DNA double-strand breaks and replication errors as well as in meiotic homologous recombination. As the Zinc-hook of Rad50 is located at the end of a long coiled-coil domain, this provides mre11 meiotic recombination 11 flexible structure in which each DNA end is accessible to additional repair enzymes while being held in close proximity to each other in preparation for re-ligation.
Cells lacking Mre11 are deficient in DSB repair, and exhibit hypersensitivity to DNA damaging agents such as ionizing radiation and radiomimetic drugs. Such cells also have abnormal DNA replication and high levels of chromosomal instability. Homozygosity for null alleles is thought to be lethal in embryogenesis, as is the case in Mre11 knockout mice.
Germline mutations have also been found in sporadic hematopoetic malignancies, with loss of mre11 meiotic recombination 11 wild-type allele in the malignant cells. Somatic Rare mutations have been found in breast cancer and lymphoma. In colon cancers not expressing Mre11, the mutation of a poly-T tract in intron 4 has been shown to induce a splicing error that truncates the protein.
Seven of 20 gastric tumors failed mre11 meiotic recombination 11 express Mre11, although the cause of this was not demonstrated.
The two disorders cannot be distinguished by their phenotypes, though there is some indication that ATLD may have a milder course. Mre11 meiotic recombination 11 severity of the disease may be dependent on the residual activity of the mutated Mre11 alleles. Prognosis Poor, though the course of the disease may be milder than found in classic A-T.
Bibliography Mre11 protein complex prevents double-strand break accumulation during chromosomal DNA replication. InterPro P Splice isoforms: Wed Feb 28 Two isoforms are expressed, isoform 1 at nt; isoform 2, nt, transcribed from an alternative first noncoding exon and lacking mre11 meiotic recombination 11 5.
Both isoforms are approximately 80 kDa. Mre11 participates in the repair of DNA double-strand breaks and replication errors as well as in meiotic homologous recombination.
The hypomorphic argter, asnser and argter alleles have been described in ATLD patients. Rare mutations have been found in breast cancer and lymphoma. Ataxia telangiectasia - like disorder ATLD. Ataxia telangiectasia-like disorder is a progressive cerebellar degenerative disease with telangiectasia, immunodeficiency, cancer risk, radiosensitivity, and chromosomal instability.
Mre11 protein complex prevents double-strand break accumulation during chromosomal DNA replication. The Mre11 meiotic recombination 11 damage-dependent intra-S phase checkpoint is regulated by parallel pathways. Gene Expression Viewer FireBrowse. MRE11 [ Firebrowse - Broad ]. CATH Classification of proteins structures.
MRE11 [ Somatic mutations - Copy number]. MRE11 select a term intoGen. MRE11 select the gene name Impact of mutations. Map Gene to Disease. Gene References Into Functions Entrez.
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