Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene

Tatsufumi Murakami, Lawrence Reiter, James R. Lupski

Research output: Contribution to journalArticle

23 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)161-164
Number of pages4
JournalGenomics
Volume42
Issue number1
DOIs
StatePublished - May 15 1997

Fingerprint

Farnesyltranstransferase
Charcot-Marie-Tooth Disease
Heme
Exons
Genes
Chromosome Duplication
TATA Box
Nucleic Acid Repetitive Sequences
Transcriptome
Genetic Promoter Regions
Sequence Analysis
Testis
Myocardium
Skeletal Muscle
Transcription Factors
Binding Sites
DNA

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. / Murakami, Tatsufumi; Reiter, Lawrence; Lupski, James R.

In: Genomics, Vol. 42, No. 1, 15.05.1997, p. 161-164.

Research output: Contribution to journalArticle

Murakami, Tatsufumi ; Reiter, Lawrence ; Lupski, James R. / Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. In: Genomics. 1997 ; Vol. 42, No. 1. pp. 161-164.
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