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Human Molecular Genetics, 2003, Vol. 12, Review Issue 1 R45-R50
DOI: 10.1093/hmg/ddg099
© 2003 Oxford University Press

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

Anne Slavotinek1,* and Leslie G. Biesecker2

1Department of Pediatrics, Division of Genetics, Room U585P, UCSF, 533 Parnassus St, San Francisco, CA, USA and 2NHGRI, NIH, Bldg. 49, Room 4A80, 49 Convent Drive, Bethesda, MD 20892-4472, USA

Received December 10, 2002; Revised January 31, 2003; Accepted February 13, 2003

Rapid developments in the elucidation of simple Mendelian traits in humans, the complexity of genotype–phenotype relationships, and the growing appreciation of complex genetic traits have conspired to focus interest on the role of modifier genes in humans. This paper reviews categories of genetic modifiers and their effects and then discusses non-Mendelian inheritance patterns involving modifier genes. Although genetic models from many disease classes of human and model systems will be considered, we focus this review on the implications for the understanding of pleiotropic malformation syndromes. Genetic modifiers have so far been molecularly defined in relatively few malformation syndromes, but the rapid acknowledgement of their critical role in human development is an exciting advance in contemporary attempts to understand the relationship of phenotype and genotype.

* To whom correspondence should be addressed. Tel: +1 4155141783; Fax: +1 4154769976; Email: slavotia{at}peds.ucsf.edu


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