CLONING AND EXPRESSION OF THE MURINE HOMOLOG OF A PUTATIVE HUMAN X-LINKED NUCLEAR-PROTEIN GENE CLOSELY LINKED TO PGK1 IN XQ13.3

被引:44
作者
GECZ, J
POLLARD, H
CONSALEZ, G
VILLARD, L
STAYTON, C
MILLASSEAU, P
KHRESTCHATISKY, M
FONTES, M
机构
[1] INSERM,U242,F-13385 MARSEILLE 5,FRANCE
[2] IST GIANNIAN GASLINI,I-16148 GENOA,ITALY
[3] INSERM,U29,F-75674 PARIS,FRANCE
[4] GENETHON,F-91000 EVRY,FRANCE
关键词
D O I
10.1093/hmg/3.1.39
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental retardation loci). Genes involved in the phenotypes have been isolated for only two of them (Menkes and SCIDX). It was therefore interesting to isolate and characterize new genes from the region. In a previous work (12 and Consalez et al, in preparation) we isolated a gene (XNP), located 350 Kb proximal to PGK1, potentially coding for a nuclear protein. We describe here the cloning and characterization of the murine homologue. The pattern of expression of the gene in the newborn mouse (especially the expression in particular regions of the brain: optical lobe, frontal cortex, hippocampus and cerebellum), as well as the expression in human tissues, suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region, X-linked mental retardation would be the best candidate to be associated with this gene.
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页码:39 / 44
页数:6
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