Human Molecular Genetics, Vol 6, 1713-1727, Copyright © 1997 by Oxford University Press
I Kola and PJ Hertzog
Human chromosome 21 is the smallest human autosome and many important
genetic/familial disorders map to this chromosome, e.g., familial
amyotrophic lateral sclerosis (FALS), Down syndrome, Alzheimer's disease
and some cases of Ewings sarcoma. Hence, the identification of genes
localised to this chromosome and studies on their normal biological
function and their role in disease is gaining momentum. The use of animal
models to generate gain- and loss-of-function mutations is an important
element of these studies on functionality/pathology and has yielded
powerful insights. However, no animal model has yet been generated that
exactly models any of the disorders associated with this chromosome. The
major utility of the animal models has been to illuminate the biological
functions of genes and the causation of pathophysiology of diseases
associated with genes on this chromosome.
REVIEWS
Animal models in the study of the biological function of genes on human chromosome 21 and their role in the pathophysiology of Down syndrome
Molecular Genetics and Development Group, Institute of Reproduction and Development, Monash University, Monash Medical Centre, Clayton, Victoria, Australia. ismailko@silas.cc.monash.edu.au
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