Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblasmic anemia, SCID, Menkes disease and X-linked mental retardation loci). Genes involved in the phenotypes have been isolated for only two of them (Menkes...

Full description

Saved in:
Bibliographic Details
Published in:Human molecular genetics 1994-01, Vol.3 (1), p.39-44
Main Authors: Gecz, J., Pollaord, H., Consalez, G., Villard, L., Stayton, C., Millasseau, P., Khrestchatisky, M., Fontes, M.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Animals, Newborn
Base Sequence
Biological and medical sciences
Brain - growth & development
Brain - metabolism
Cell Differentiation
Cloning, Molecular
DNA Helicases
DNA Primers
Fundamental and applied biological sciences. Psychology
Gene Expression
Genes. Genome
Genetic Linkage
Humans
In Situ Hybridization
Intellectual Disability - genetics
Mice
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Neurons - cytology
Neurons - metabolism
Nuclear Proteins - biosynthesis
Nuclear Proteins - genetics
Phosphoglycerate Kinase - genetics
Polymerase Chain Reaction
RNA, Messenger - analysis
RNA, Messenger - biosynthesis
Sequence Homology, Amino Acid
Transcription, Genetic
X Chromosome
X-linked Nuclear Protein
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblasmic 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 etal, 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 reglons 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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/3.1.39