Loss of Bloom syndrome protein destabilizes human gene cluster architecture
نویسندگان
چکیده
منابع مشابه
Chromosomal study of Bloom syndrome: Report of a case
Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were p...
متن کاملThe human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants.
Bloom syndrome is a disorder of profound and early cancer predisposition in which cells become hypermutable, exhibit high frequency of sister chromatid exchanges, and show increased micronuclei. BLM, the gene mutated in Bloom syndrome, has been cloned previously, and the BLM protein is a member of the RecQ family of DNA helicases. Many lines of evidence suggest that BLM is involved either direc...
متن کاملStructure and function of the regulatory HRDC domain from human Bloom syndrome protein
The helicase and RNaseD C-terminal (HRDC) domain, conserved among members of the RecQ helicase family, regulates helicase activity by virtue of variations in its surface residues. The HRDC domain of Bloom syndrome protein (BLM) is known as a critical determinant of the dissolution function of double Holliday junctions by the BLM-Topoisomerase IIIα complex. In this study, we determined the solut...
متن کاملBloom ’ s syndrome
Key-words Disease name/synonyms Definition Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Antenatal diagnosis Management including treatment Unresolved questions References Abstract Bloom’s syndrome (BS) is a rare human autosomal recessive disorder belonging to a group of “chromosomal breakage syndromes”. BS is characterized by marked gen...
متن کاملLoss of ASAP3 destabilizes cytoskeletal protein ACTG1 to suppress cancer cell migration.
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), previously known as ACAP4, DDEFL1 and UPLC1, is considered to be an important regulator in cancer cell migration/invasion and actin-based cytoskeletal remodeling. However, the underlying mechanisms through which ASAP3 mediates these processes are not well-elucidated. This study reported that in certain types of cancer cells, loss o...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddp282