Abstract:
: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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Gecz J,Pollard H,Consalez G,Villard L,Stayton C,Millasseau P,Khrestchatisky M,Fontes Mdoi
10.1093/hmg/3.1.39subject
Has Abstractpub_date
1994-01-01 00:00:00pages
39-44issue
1eissn
0964-6906issn
1460-2083journal_volume
3pub_type
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