A chromosome 21 critical region does not cause specific down syndrome phenotypes

L. E. Olson, J. T. Richtsmeier, J. Leszl, R. H. Reeves

Research output: Contribution to journalArticlepeer-review

Abstract

The "Down syndrome critical region" (DSCR) is a chromosome 21 segment purported to contain genes responsible for many features of Down syndrome (DS), including craniofacial dysmorphology. We used chromosome engineering to create mice that were trisomic or monosomic for only the mouse chromosome segment orthologous to the DSCR and assessed dysmorphologies of the craniofacial skeleton that show direct parallels with DS in mice with a larger segmental trisomy. The DSCR genes were not sufficient and were largely not necessary to produce the facial phenotype. These results refute specific predictions of the prevailing hypothesis of gene action in DS.

Original languageEnglish (US)
Pages (from-to)687-690
Number of pages4
JournalScience
Volume306
Issue number5696
DOIs
StatePublished - Oct 22 2004

ASJC Scopus subject areas

  • General

Fingerprint Dive into the research topics of 'A chromosome 21 critical region does not cause specific down syndrome phenotypes'. Together they form a unique fingerprint.

Cite this