Linked Life Data

9403059

Source:http://linkedlifedata.com/resource/pubmed/id/9403059

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1998-1-13
pubmed:databankReference
pubmed:abstractText
Misalignment between the two elements of the CMT1A-REP binary repeat on chromosome 17p11.2-p12 causes two inherited peripheral neuropathies, Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies. This binary repeat contains repetitive DNA elements that include LINES, SINES, medium reiteration frequency repeats, and a transposon-like element. The COX10 gene has been mapped 10 kb centromeric to the distal CMT1A-REP element, and a portion of this gene is present in both the proximal and the distal CMT1A-REP elements. We report the isolation and characterization of a novel cDNA (C170RF1), which maps centromeric to and partially within the proximal CMT1A-REP element. Part of C170RF1 is transcribed from the opposite strand of the COX10 partial gene duplication present in the proximal CMT1A-REP element. This finding shows that C170RF1 and COX10 are being transcribed from opposite strands of identical DNA sequences that are separated by 1.5 Mb in the genome. RT-PCR analysis showed the proximal transcript was expressed in skeletal muscle. Sequence analysis identified an open reading frame encoding a 199-amino-acid protein. Zoo blot analysis showed that the transcript is conserved in nonhuman primates. The presence of a binary repeat contributes to the instability of this region of chromosome 17, yet two CMT1A-REP elements are present in the chimpanzee and all human populations. The presence of expressed sequences in both elements of the CMT1A-REP binary repeat could explain the maintenance of this repeat in humans.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
61-9
pubmed:dateRevised
2011-10-17
pubmed:meshHeading
pubmed-meshheading:9403059-Adult, pubmed-meshheading:9403059-Alkyl and Aryl Transferases, pubmed-meshheading:9403059-Amino Acid Sequence, pubmed-meshheading:9403059-Animals, pubmed-meshheading:9403059-Base Sequence, pubmed-meshheading:9403059-Charcot-Marie-Tooth Disease, pubmed-meshheading:9403059-Chromosome Mapping, pubmed-meshheading:9403059-Cloning, Molecular, pubmed-meshheading:9403059-Genes, pubmed-meshheading:9403059-Genes, Overlapping, pubmed-meshheading:9403059-Humans, pubmed-meshheading:9403059-Membrane Proteins, pubmed-meshheading:9403059-Molecular Sequence Data, pubmed-meshheading:9403059-Multigene Family, pubmed-meshheading:9403059-Muscle, Skeletal, pubmed-meshheading:9403059-Myocardium, pubmed-meshheading:9403059-Organ Specificity, pubmed-meshheading:9403059-Primates, pubmed-meshheading:9403059-RNA, Messenger, pubmed-meshheading:9403059-Repetitive Sequences, Nucleic Acid, pubmed-meshheading:9403059-Sequence Alignment, pubmed-meshheading:9403059-Sequence Analysis, DNA, pubmed-meshheading:9403059-Species Specificity, pubmed-meshheading:9403059-Transcription, Genetic
pubmed:year
1997
pubmed:articleTitle
The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.
pubmed:affiliation
Molecular Medicine Laboratory, University of Sydney, Concord Hospital, New South Wales, Australia. marinak@med.usyd.edu.au
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't