Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1997-2-11
|
| pubmed:databankReference | |
| pubmed:abstractText |
Microphthalmia with linear skin defects syndrome (MLS) is an X-linked male-lethal disorder associated with X chromosomal rearrangements resulting in monosomy from Xpter to Xp22. Features include micro- phthalmia, sclerocornea, linear skin defects, and agenesis of the corpus callosum. Using a cross-species conservation strategy, an expressed sequence from the 450- to the 550-kb MLS critical region on Xp22 was identified by screening a human embryo cDNA library. Northern analysis revealed a transcript of approximately 2.6 kb in all tissues examined, with weaker expression of approximately 1.2- and approximately 5.2-kb transcripts. The strongest expression was observed in heart and skeletal muscle. Sequence analysis of a 3-kb cDNA contig revealed an 807-bp open reading frame encoding a putative 268-amino-acid protein. Comparison of the sequence with sequences in the databases revealed homology with holocytochrome c-type synthetases, which catalyze the covalent addition of a heme group onto c-type cytochromes in the mitochondria. The c-type cytochromes are required for proper functioning of the electron transport pathway. The human gene (HGMW-approved symbol HCCS) and the corresponding murine gene characterized in this paper are the first mammalian holocytochrome c-type synthetases to be described in the literature. Because of the lack of a neuromuscular phenotype in MLS, it is uncertain whether the deletion of a mitochondrial holocytochrome synthetase would contribute to the phenotype seen in MLS. The expression pattern of this gene and knowledge about the function of holocytochrome synthetases, however, suggest that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondrial dysfunction.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0888-7543
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
34
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
166-72
|
| pubmed:dateRevised |
2007-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8661044-Amino Acid Sequence,
pubmed-meshheading:8661044-Animals,
pubmed-meshheading:8661044-Base Sequence,
pubmed-meshheading:8661044-Caenorhabditis elegans,
pubmed-meshheading:8661044-Cell Line,
pubmed-meshheading:8661044-Chromosome Mapping,
pubmed-meshheading:8661044-Cosmids,
pubmed-meshheading:8661044-Embryo, Mammalian,
pubmed-meshheading:8661044-Embryo, Nonmammalian,
pubmed-meshheading:8661044-Gene Library,
pubmed-meshheading:8661044-Genes, Lethal,
pubmed-meshheading:8661044-Humans,
pubmed-meshheading:8661044-Lyases,
pubmed-meshheading:8661044-Lymphocytes,
pubmed-meshheading:8661044-Male,
pubmed-meshheading:8661044-Mice,
pubmed-meshheading:8661044-Microphthalmos,
pubmed-meshheading:8661044-Molecular Sequence Data,
pubmed-meshheading:8661044-Monosomy,
pubmed-meshheading:8661044-Neurospora crassa,
pubmed-meshheading:8661044-RNA, Messenger,
pubmed-meshheading:8661044-Restriction Mapping,
pubmed-meshheading:8661044-Saccharomyces cerevisiae,
pubmed-meshheading:8661044-Sequence Homology, Amino Acid,
pubmed-meshheading:8661044-Skin Abnormalities,
pubmed-meshheading:8661044-Software,
pubmed-meshheading:8661044-Transcription, Genetic,
pubmed-meshheading:8661044-X Chromosome
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).
|
| pubmed:affiliation |
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|