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

L. E. Olson, Joan Therese Richtsmeier, J. Leszl, R. H. Reeves

Research output: Contribution to journalArticle

220 Citations (Scopus)

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

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Chromosomes, Human, Pair 21
Down Syndrome
Phenotype
Chromosomes
Genes
Trisomy
Skeleton
Down Syndrome Critical Region

All Science Journal Classification (ASJC) codes

  • General

Cite this

Olson, L. E. ; Richtsmeier, Joan Therese ; Leszl, J. ; Reeves, R. H. / A chromosome 21 critical region does not cause specific down syndrome phenotypes. In: Science. 2004 ; Vol. 306, No. 5696. pp. 687-690.
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A chromosome 21 critical region does not cause specific down syndrome phenotypes. / Olson, L. E.; Richtsmeier, Joan Therese; Leszl, J.; Reeves, R. H.

In: Science, Vol. 306, No. 5696, 22.10.2004, p. 687-690.

Research output: Contribution to journalArticle

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