The cmt1a-rep binary repeat: from disease causing genomic rearrangements to a role in gene evolution

M. L. Kennerson*, N. T. Nassif, G. A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The CMT1A-REP binary repeat consists of two homologous regions of DNA, a proximal CMT1A-REP element and a distal CMT1A-REP element, that flank a 1.5 Mb DNA segment on chromosome 17pll.2-pl2. Misalignment between sequences within the two elements of this binary repeat during homologous recombination causes two inherited peripheral neuropathies, Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). Despite contributing to the instability of this region of chromosome 17, CMT1 A-REP is maintained as a binary repeat in chimpanzees and all human populations of different ethnic origin. Two genes mapping wholly, or partially, within the binary repeat have been recently identified. The distal CMT1A-REP element is known to lie within the COX10 gene and a duplicated 'pseudo' exon of this gene is present in the proximal CMT1A-REP element. A second gene, C17ORFIA, localises partially within the proximal CMT1 A-REP element. This gene includes the duplicated COX10 exon and part of the flanking intronic sequences within its coding region. The sequences derived from the COX 10 gene form part of the open reading frame and 3' untranslated region of C17ORF1A by the utilisation of the opposite DNA strand to that used in the COX 10 gene. The antisense nature of C17ORF1A raises the possibility of C17ORF1A acting as a down regulator of the COXW gene. This review will highlight the unique features of this disease-causing repeat and its role in the formation of a previously undescribed gene that appears to be present only in humans and primates.

Original languageEnglish
Pages (from-to)81-90
Number of pages10
JournalCurrent Genomics
Issue number1
Publication statusPublished - 2000
Externally publishedYes


Dive into the research topics of 'The cmt1a-rep binary repeat: from disease causing genomic rearrangements to a role in gene evolution'. Together they form a unique fingerprint.

Cite this