Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.
The gene encoding human adrenal steroid 21-hydroxylase (P450c21) and its highly similar pseudogene are duplicated in tandem with the two genes encoding the fourth component of human serum hemolytic complement (C4). This 60-kilobase gene complex, which lies within the major histocompatibility complex on the short arm of human chromosome 6, has been studied in considerable detail because genetic disorders in steroid 21-hydroxylation and in C4 are common. We have cloned a cDNA encoded by a previously unidentified gene in this region. This gene lies on the strand of DNA opposite from the strand containing the P450c21 and C4 genes, and it overlaps the last exon of P450c21. The newly identified gene encodes mRNAs of 3.5 and 1.8 kilobases that are expressed in the adrenal and in a Leydig cell tumor but are not expressed in nonsteroidogenic tissues. The sequence of the longest cDNA (2.7 kilobases) shows no similarity to known sequences available in two computerized data bases. The 5' end of this sequence is characterized by three repeats, each encoding about 100 amino acids flanked by potential sites for proteolytic cleavage. Although numerous studies have shown that gene deletions causing congenital adrenal hyperplasia occur in this region, none of these gene deletions extends into this newly identified gene, suggesting that it encodes an essential function.
Morel
Y
Y
Department of Pediatrics, University of California, San Francisco 94143-0434.
Bristow
J
J
Gitelman
S E
SE
Miller
W L
WL
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003001:Cloning, Molecular; D003181:Complement C4 / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005796:Genes; D006801:Humans; D007256:Information Systems; D008969:Molecular Sequence Data; D008970:Molecular Weight; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D015183:Restriction Mapping; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D013250:Steroid Hydroxylases / Q000235:genetics*; D014158:Transcription, Genetic
D003181:Complement C4; D012313:RNA; D004247:DNA; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase