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A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

Science (New York, N.Y.) | Oct 22, 2004

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.

Pubmed ID: 15499018 RIS Download

Mesh terms: Animals | Chromosome Deletion | Chromosomes, Human, Pair 21 | Chromosomes, Mammalian | Craniofacial Abnormalities | Crosses, Genetic | Disease Models, Animal | Down Syndrome | Female | Gene Dosage | Gene Duplication | Gene Targeting | Genetic Vectors | Humans | Karyotyping | Male | Mandible | Mice | Mice, Inbred C57BL | Monosomy | Phenotype | Recombination, Genetic | Skull | Trisomy

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Associated grants

  • Agency: NICHD NIH HHS, Id: HD38384
  • Agency: NICHD NIH HHS, Id: R01 HD038384
  • Agency: NICHD NIH HHS, Id: P01 HD024605
  • Agency: NIDCR NIH HHS, Id: F33 DE005706
  • Agency: NICHD NIH HHS, Id: HD24605

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