Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.
Proc Natl Acad Sci U S A
; 92(20): 9191-5, 1995 Sep 26.
Article
en En
| MEDLINE
| ID: mdl-7568099
ABSTRACT
Many features of Down syndrome might result from the overdosage of only a few genes located in a critical region of chromosome 21. To search for these genes, cosmids mapping in this region were isolated and used for trapping exons. One of the trapped exons obtained has a sequence very similar to part of the Drosophila single-minded (sim) gene, a master regulator of the early development of the fly central nervous system midline. Mapping data indicated that this exonic sequence is only present in the Down syndrome-critical region in the human genome. Hybridization of this exonic sequence with human fetal kidney poly(A)+ RNA revealed two transcripts of 6 and 4.3 kb. In situ hybridization of a probe derived from this exon with human and rat fetuses showed that the corresponding gene is expressed during early fetal life in the central nervous system and in other tissues, including the facial, skull, palate, and vertebra primordia. The expression pattern of this gene suggests that it might be involved in the pathogenesis of some of the morphological features and brain anomalies observed in Down syndrome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Expresión Génica
/
Sistema Nervioso Central
/
Genes Reguladores
/
Genes de Insecto
/
Síndrome de Down
/
Proteínas de Unión al ADN
/
Drosophila
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Proc Natl Acad Sci U S A
Año:
1995
Tipo del documento:
Article
País de afiliación:
Francia