Linked Life Data

11054533

Source:http://linkedlifedata.com/resource/pubmed/id/11054533

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2000-12-6
pubmed:databankReference
pubmed:abstractText
A putative Drosophila homolog of the Friedreich's ataxia disease gene (FRDA) has been cloned and characterized; it has been named Drosophila frataxin homolog (dfh). It is located at 8C/D position on X chromosome and is spread over 1kb, a much smaller genomic region than the human gene. Its genomic organization is simple, with a single intron dividing the coding region into two exons. The predicted encoded product has 190 amino acids, being considered a frataxin-like protein on the basis of the sequence and secondary structure conservation when compared with human frataxin and related proteins from other eukaryotes. The closest match between the Drosophila and the human proteins involved a stretch of 38 amino acids at C-terminus, encoded by dfh exon 2, and exons 4 and 5a of the FRDA gene, respectively. This highly conserved region is very likely to form a functional domain with a beta sheet structure flanked by alpha-helices where the sequence is less conserved. A signal peptide for mitochondrial import has also been predicted in the Drosophila frataxin-like protein, suggesting its mitochondrial localization, as occurs for human frataxin and other frataxin-like proteins described in eukaryotes. The Drosophila gene is expressed throughout the development of this organism, with a peak of expression in 6-12h embryos, and showing a spatial ubiquitous pattern from 4h embryos to the last embryonic stage examined. The isolation of dfh will soon make available specific dfh mutants that help in understanding the pathogenesis of FRDA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0378-1119
pubmed:author
pubmed:issnType
Print
pubmed:day
3
pubmed:volume
256
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
35-42
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:11054533-Amino Acid Sequence, pubmed-meshheading:11054533-Animals, pubmed-meshheading:11054533-Blotting, Northern, pubmed-meshheading:11054533-Cloning, Molecular, pubmed-meshheading:11054533-DNA, pubmed-meshheading:11054533-DNA, Complementary, pubmed-meshheading:11054533-Drosophila, pubmed-meshheading:11054533-Drosophila Proteins, pubmed-meshheading:11054533-Drosophila melanogaster, pubmed-meshheading:11054533-Embryo, Nonmammalian, pubmed-meshheading:11054533-Embryonic Development, pubmed-meshheading:11054533-Exons, pubmed-meshheading:11054533-Friedreich Ataxia, pubmed-meshheading:11054533-Gene Expression Regulation, Developmental, pubmed-meshheading:11054533-Genes, Insect, pubmed-meshheading:11054533-In Situ Hybridization, pubmed-meshheading:11054533-Introns, pubmed-meshheading:11054533-Iron-Binding Proteins, pubmed-meshheading:11054533-Molecular Sequence Data, pubmed-meshheading:11054533-Phosphotransferases (Alcohol Group Acceptor), pubmed-meshheading:11054533-RNA, Messenger, pubmed-meshheading:11054533-Sequence Alignment, pubmed-meshheading:11054533-Sequence Analysis, DNA, pubmed-meshheading:11054533-Sequence Homology, Amino Acid
pubmed:year
2000
pubmed:articleTitle
dfh is a Drosophila homolog of the Friedreich's ataxia disease gene.
pubmed:affiliation
Departament de Genètica, Facultat de Ciències Biológiques, Universitat de València, 46100, Burjassot, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't