Uniparental disomy and human disease: An overview

Authors

  • Kazuki Yamazawa,

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    • Dr. Kazuki Yamazawa is a medically qualified postdoctoral research associate in the Department of Physiology, Development and Neuroscience at the University of Cambridge. His research interests include epigenetic regulation in human growth and development.

  • Tsutomu Ogata,

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    • Dr. Tsutomu Ogata is a director of the Department of Endocrinology and Metabolism at the National Research Institute for Child Health and Development in Japan. He is primarily investigating growth failure, disorders of sex development, and congenital malformation in terms of single gene, multifactorial, and epigenetic disorders.

  • Anne C. Ferguson-Smith

    Corresponding author
    • Department of Physiology, Development and Neuroscience, University of Cambridge, Physiology Building G-floor, Downing Street, Cambridge CB2 3EG, UK.
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    • Dr. Anne C. Ferguson-Smith is Professor of Developmental Genetics in the Department of Physiology, Development and Neuroscience at the University of Cambridge. Her research focuses on genomic imprinting in mammalian development and human disease, and the epigenetic control of genome function.


  • How to cite this article: Yamazawa K, Ogata T, Ferguson-Smith AC. 2010. Uniparental disomy and human disease: An overview. Am J Med Genet Part C Semin Med Genet 153C:329–334.

Abstract

Uniparental disomy (UPD) refers to the situation in which both homologues of a chromosomal region/segment have originated from only one parent. This can involve the entire chromosome or only a small segment. As a consequence of UPD, or uniparental duplication/deficiency of part of a chromosome, there are two types of developmental risk: aberrant dosage of genes regulated by genomic imprinting and homozygosity of a recessive mutation. UPD models generated by reciprocal and Robertsonian translocation heterozygote intercrosses have been a powerful tool to investigate genomic imprinting in mice, whereas novel UPD patients such as those with cystic fibrosis and Prader–Willi syndrome, triggered the clarification of recessive diseases and genomic imprinting disorders in human. Newly developed genomic technologies as well as conventional microsatellite marker methods have been contributing to the functional and mechanistic investigation of UPD, leading to not only the acquisition of clinically valuable information, but also the further clarification of diverse genetic processes and disease pathogenesis. © 2010 Wiley-Liss, Inc.

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