NameBLM
OrganismHomo sapiens
Aging PhenotypeShortened life-span
Allele TypeRecessive
StrainN/A
DescriptionMutation of BLM causes Bloom Syndrome. Patients with Bloom syndrome have a shortened life expectancy. Death is mainly due to cancer, particularly leukemia and lymphoma (German, 1992). Bloom syndrome is not a premature aging disease.
Gene FunctionBLM codes for a DNA helicase of the Rec family (Ellis et al, 1995). In mice, BLM protein localizes as foci along the synaptonemal complex in meiotic prophase (Walpita et al, 1999).
Other PhenotypesThe characteristics of Bloom syndrome are growth deficiency, sun-sensitivity, telangiectatic hypo- and hyperpigmented skin, predispostion to malignancy, and chromosomal instability (German, 1969).
HomologsS.c. SGS1
S.p. Rqh1
C.e. TO4A11.6, E03A3.2
D.m. BLM, RECQ5, RECQ4,
R.n. RN3436, RN14550
M.m. WRN, MM.27407, BLM,
H.s. RECQL, WRN, RECQL5, RECQL4
Primary ReferenceGerman, J. Bloom's syndrome: incidence, age of onset, and types of leukemia in the Bloom's Syndrome Registry.In: Bartsocas, C. S.; Loukopoulos, D. Genetics of Hematological Disorders. Washington, D. C.: Hemisphere Publishers (pub.) 1992. Pp. 241-258.
Other ReferencesEllis, N. A.; Groden, J.; Ye, T.-Z.; Straughen, J.; Lennon, D. J.; Ciocci, S.; Proytcheva, M.; German, J. (1995). The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83, 655-666. [Abstract]
German, J. (1969). Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am. J. Hum. Genet. 21, 196-227.
Walpita, D.; Plug, A. W.; Neff, N. F.; German, J.; Ashley, T. (1999). Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. Proc. Nat. Acad. Sci. 96, 5622-5627. [Abstract]
Relevant LinksOMIM: http://www3.ncbi.nlm.nih.gov/Omim/
KeywordsHomo, sapiens, human, DNA damage, cancer, Recombination, Bloom syndrome