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

Genomics
T MurakamiJ R Lupski

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.

References

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Sep 1, 1996·Medicine·T MurakamiJ R Lupski

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Citations

May 9, 2002·Genome Research·Sung-Sup ParkJames R Lupski
Dec 10, 1999·Annals of the New York Academy of Sciences·C F BoerkoelJ R Lupski
May 15, 2009·Genome Medicine·James R Lupski
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Claudia M B CarvalhoJames R Lupski
Apr 23, 2004·American Journal of Medical Genetics. Part a·Kari CasasNathan Fischel-Ghodsian
Oct 15, 2009·Journal of Neural Transmission·Massimiliano VitaliDario Finazzi
Oct 1, 1999·Annals of the New York Academy of Sciences·C F BoerkoelJ R Lupski

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