Publication Date:
2004-10-23
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019810/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019810/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Olson, L E -- Richtsmeier, J T -- Leszl, J -- Reeves, R H -- F33 DE005706/DE/NIDCR NIH HHS/ -- HD24605/HD/NICHD NIH HHS/ -- HD38384/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 2004 Oct 22;306(5696):687-90.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15499018" target="_blank"〉PubMed〈/a〉
Keywords:
Animals
;
Chromosome Deletion
;
Chromosomes, Human, Pair 21/*genetics
;
Chromosomes, Mammalian/*genetics
;
Craniofacial Abnormalities/genetics
;
Crosses, Genetic
;
*Disease Models, Animal
;
Down Syndrome/*genetics/pathology
;
Female
;
Gene Dosage
;
Gene Duplication
;
Gene Targeting
;
Genetic Vectors
;
Humans
;
Karyotyping
;
Male
;
Mandible/abnormalities
;
Mice
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Mice, Inbred C57BL
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Monosomy
;
Phenotype
;
Recombination, Genetic
;
Skull/abnormalities
;
*Trisomy
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
