Bloom's syndrome (BSyn) is a rare, recessively transmitted disorder that is characterized by a great increase in genomic instability. BSyn cells exhibit hyperrecombinability of chromosomal DNA and its associated hypermutability. BSyn more than any other condition whether genetically or environmentally caused predisposes to cancer of a wide variety of cellular types and anatomical sites. BSyn is a model for investigation because it displays in an exaggerated way the developmental consequences of somatic mutation, including the mutational changes responsible for cancer. To understand the basis for BSyn's hypermutability requires an understanding of the biological role(s) of BLM, the protein that is dysfunctional or absent in cells of persons with BSyn. As part of an attempt to increase understanding of BLM's biological activity the cellular distribution of BLM and its interactions with other nuclear proteins during the cell cycle are being studied in the laboratory. The cytogenetic and somatic cell genetics experimental work on BSyn study the constitutional genomic instability of BSyn cells in order to elucidate underlying mechanisms that cause, either directly, or indirectly the cancers that arise much earlier in life and more frequently in persons with BSyn.
1972 B.A., Skidmore College, Saratoga Springs, New York
1980 M.S., Fordham University, Bronx, New York
1985 Ph.D., Fordham University, Bronx, New York
1987 Postdoctoral Fellowship, Laboratory of Human Genetics, New York Blood Center
1987 Diplomate in Clinical Cytogenetics, American Board of Medical Genetics
Ellis NA, Proytcheva M, Sanz MM, Ye TZ, German J. (1999) Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. Amer. J. Hum. Genet., 65:1368-1374.
Sanz MM, Proytcheva M, Ellis NA, Holloman WK, German J. (2000) BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. Cytogenet. Cell Genet., 91(1-4):217-223.
Goss KH, Risinger MA, Kordich JJ, Sanz MM, Straughen JE, Slovek LE, Capobianco AJ, German J, Boivin GP, Groden J. (2002) Enhanced tumor formation in mice heterozygous for Blm mutation. Science, 297(5589):2051-3.
Diaz A, Vogiatzi M, Sanz M M, German J. (2006) Bloom's syndrome. XXI. Disturbed carbohydrate metabolism from early childhood. Hormone Res., 66(3):111-7.
German J, Sanz MM, Ciocci S, Tian ZY, Ellis NA. (2007) Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum. Mut., 8:743-53.
German J, Sanz MM, Ellis NA. (2007) Bloom's syndrome. XXII. Numerous founder mutations bear witness to the persistence of mutant alleles in different human populations. In: Mayo, O. and Leach, C. eds. Fifty Years of Human Genetics. Australia: Wakefield Press. p. 409-426.
German J, Sanz MM. (2009) The Bloom's Syndrome Registry. Copyright, Weill Cornell Medical College, New York. Available at http://www.med.cornell.edu/bsr/.
Sanz, M., and German, J., (2010). Bloom's Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
Sanz MM, German J. Bloom's syndrome. In: Brenner's Encyclopedia of Genetics. 2nd edition, Brenner, S and Miller, J eds. Elsevier-Academic Press, England. In press.