Journal Article

New techniques to understand chromosome dosage: mouse models of aneuploidy

Victor L.J. Tybulewicz and Elizabeth M.C. Fisher

in Human Molecular Genetics

Volume 15, issue suppl_2, pages R103-R109
Published in print October 2006 | ISSN: 0964-6906
Published online October 2006 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddl179
New techniques to understand chromosome dosage: mouse models of aneuploidy

Show Summary Details

Preview

Aberrations in human chromosome copy number and structure are common and extremely deleterious. Their downstream effects on phenotype are caused by aberrant dosage of sequences in the affected regions. However, we know little about why the abnormal gene copy number causes disease or why specific features result from deficits in specific chromosomes. Mice are the organism of choice to help us try to tease apart the complex relationships between genotype and phenotype in aneuploidy and segmental aneusomy syndromes. As new technologies such as chromosome engineering and the creation of transchromosomic mice become routine, these will help us identify individual dosage-sensitive genes that are causative in specific syndromes and will enable us to produce mouse models to accurately recapitulate human chromosomal disorders.

Journal Article.  4699 words.  Illustrated.

Subjects: Genetics and Genomics

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.