Uniparental disomy and human disease: An overview

Kazuki Yamazawa, Tsutomu Ogata, Anne C. Ferguson-Smith

Research output: Contribution to journalReview article

86 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)329-334
Number of pages6
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume154
Issue number3
DOIs
Publication statusPublished - 2010 Aug 15

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Keywords

  • Genomic imprinting
  • Heterodisomy
  • Isodisomy
  • Recessive mutation
  • Recurrence risk
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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