title: Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
abstract: Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2-p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by two 24-kb direct repeats termed the CMT1A-REPs. Recently, sequence analysis of the CMT1A-REPs revealed that they contain an internal exon of the COX10 gene. To characterize COX10, encoding human heme A:farnesyltransferase, the genomic region was isolated and the gene structure and expression profile were determined. COX10 spans approximately 135 kb and consists of seven exons. Exons I-V are telomeric to the 1.5-Mb CMT1A monomer unit, whereas exon VII is located within this 1.5-Mb region. Exon VI is contained within the distal CMT1A-REP. All splice sites conform to the GT/AG rule. Analysis of the putative promoter region of the COX10 gene indicates that it lacks conventional TATA and CAAT boxes, but it does have several potential transcription factor-binding sites. This gene is expressed in multiple tissues with highest expression observed in the heart, skeletal muscle, and testis.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houstan, Texas 77030, USA.
authors.forename: T
authors.initials: T
authors.lastname: Murakami
authors.forename: L T
authors.initials: LT
authors.lastname: Reiter
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D019883:Alkyl and Aryl Transferases; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000201:enzymology / Q000235:genetics; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D003576:Electron Transport Complex IV; D005091:Exons; D015870:Gene Expression; D015417:Hereditary Sensory and Motor Neuropathy / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014166:Transferases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D008565:Membrane Proteins; C490115:COX10 protein, human; D003576:Electron Transport Complex IV; D014166:Transferases; D019883:Alkyl and Aryl Transferases