Reference - Detail
RRC ID | 35705 |
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Author | Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M. |
Title | Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. |
Journal | Am J Hum Genet |
Abstract |
Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating enzyme acts in FANCD2/FANCI monoubiquitination, a critical event in the pathway. Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T. They both produced a defective UBE2T protein with the same missense alteration (p.Gln2Glu) that abolished FANCD2 monoubiquitination and interaction with FANCL. We suggest this FA complementation group be named FA-T. |
Volume | 96(6) |
Pages | 1001-7 |
Published | 2015-6-4 |
DOI | 10.1016/j.ajhg.2015.04.022 |
PII | S0002-9297(15)00189-5 |
PMID | 26046368 |
PMC | PMC4457949 |
MeSH | Amino Acid Sequence Base Sequence Child Child, Preschool Fanconi Anemia / genetics* Fanconi Anemia / pathology* Fanconi Anemia Complementation Group L Protein / metabolism Female Gene Components Genotype Humans Japan Male Models, Molecular* Molecular Sequence Data Mutation, Missense / genetics* Pedigree Protein Conformation Sequence Alignment Sequence Analysis, DNA Ubiquitin-Conjugating Enzymes / chemistry Ubiquitin-Conjugating Enzymes / genetics* Ubiquitin-Conjugating Enzymes / metabolism Ubiquitination / genetics |
IF | 10.502 |
Times Cited | 68 |
WOS Category | GENETICS & HEREDITY |
Resource | |
DNA material | CSII-CMV-MCS-IRES2-Bsd (RDB04385) pCAG-HIVgp (RDB04394) pCMV-VSV-G-RSV-Rev (RDB04393). |