Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.
AUTOR(ES)
Dahmane, N
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=40950Documentos Relacionados
- Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development.
- Serotonin initiates and autoamplifies its own synthesis during mouse central nervous system development.
- Expressão heteróloga, purificação e caracterização das proteínas humanas DCRA (Down Syndrome Critical Region Gene A) e DSCR8 (Down Syndrome Critical Region Gene 8).
- Cloning of Two Human Homologs of the Drosophila single-minded Gene SIM1 on Chromosome 6q and SIM2 on 21q Within the Down Syndrome Chromosomal Region
- Cloning and characterization of a receptor-class phosphotyrosine phosphatase gene expressed on central nervous system axons in Drosophila melanogaster.