Structure and expression of the human pseudoautosomal gene XE7

The human pseudoautosomal region comprises a 2.6 megabase segment of the distal short arms of the X and Y chromosomes. Complete DNA sequence homology between the two sex chromosomes is found in this region, and is believed to be important in mediating X-Y pairing in male meiosis. The only known func...

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Bibliographic Details
Published inHuman molecular genetics Vol. 1; no. 9; p. 691
Main Authors Ellison, J W, Ramos, C, Yen, P H, Shapiro, L J
Format Journal Article
LanguageEnglish
Published England 01.12.1992
Subjects
Alternative Splicing
Amino Acid Sequence
Antigens
Base Sequence
Brain - physiology
Cell Line
Codon - genetics
DNA - genetics
DNA - isolation & purification
Exons
Female
Humans
In Vitro Techniques
Liver - physiology
Male
Membrane Glycoproteins
Molecular Sequence Data
Muscles - physiology
Organ Specificity
Polymerase Chain Reaction - methods
Proteins - genetics
Pseudogenes
Restriction Mapping
RNA, Messenger - genetics
Spleen - physiology
X Chromosome
Y Chromosome
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Summary:The human pseudoautosomal region comprises a 2.6 megabase segment of the distal short arms of the X and Y chromosomes. Complete DNA sequence homology between the two sex chromosomes is found in this region, and is believed to be important in mediating X-Y pairing in male meiosis. The only known functional genes in this region are MIC2 and CSF2R; in addition a pseudoautosomal location has been proposed for a genetic locus controlling stature. Here we report the structure of a recently identified pseudoautosomal gene, XE7, and its expression in human tissues. Analysis of genomic and cDNA clones shows that alternative RNA splicing results in the production of two predicted protein isoforms, one containing 385 amino acids and the other with 695 residues. The smaller polypeptide is a truncated version of the larger, and results from the inclusion of a cassette exon that introduces an in-frame stop codon into the mRNA. The XE7 gene appears to be ubiquitously expressed, and the production of both protein isoforms is predicted in each of several tissues examined.
ISSN:0964-6906