Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-6-3
pubmed:abstractText
Robust SNP genotyping technologies and data analysis programs have encouraged researchers in recent years to use SNPs for linkage studies. Platforms used to date have been 10 K chip arrays, but the possible value of interrogating SNPs at higher densities has been considered. Here, we present a genome-wide linkage analysis by means of a 500 K SNP platform. The analysis was done on a large pedigree affected with Parkinsonian-pyramidal syndrome (PPS), and the results showed linkage to chromosome 22. Sequencing of candidate genes revealed a disease-associated homozygous variation (R378G) in FBXO7. FBXO7 codes for a member of the F-box family of proteins, all of which may have a role in the ubiquitin-proteosome protein-degradation pathway. This pathway has been implicated in various neurodegenerative diseases, and identification of FBXO7 as the causative gene of PPS is expected to shed new light on its role. The performance of the array was assessed and systematic analysis of effects of SNP density reduction was performed with the real experimental data. Our results suggest that linkage in our pedigree may have been missed had we used chips containing less than 100,000 SNPs across the genome.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-10531035, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-10531037, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-10762546, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-11731797, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-11921081, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-12387273, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-12844283, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-1436057, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-14556719, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-14652446, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15060841, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15145941, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15286161, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15311375, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15312650, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15352157, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15492927, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15520277, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-15561999, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16096642, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16148945, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16362831, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16410730, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16451672, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16495328, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-16510124, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-17156103, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-17322880, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-17337817, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-17634434, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-2063080, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-7782289, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-8595404, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-8706131, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-9288093, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-9345087, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-9539796, http://linkedlifedata.com/resource/pubmed/commentcorrection/18513678-9593663
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1537-6605
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1375-84
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:18513678-Amino Acid Substitution, pubmed-meshheading:18513678-Chromosomes, Human, Pair 22, pubmed-meshheading:18513678-F-Box Proteins, pubmed-meshheading:18513678-Female, pubmed-meshheading:18513678-Genetic Linkage, pubmed-meshheading:18513678-Genome, Human, pubmed-meshheading:18513678-Humans, pubmed-meshheading:18513678-Lod Score, pubmed-meshheading:18513678-Male, pubmed-meshheading:18513678-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:18513678-Parkinson Disease, pubmed-meshheading:18513678-Pedigree, pubmed-meshheading:18513678-Phenotype, pubmed-meshheading:18513678-Point Mutation, pubmed-meshheading:18513678-Polymorphism, Single Nucleotide, pubmed-meshheading:18513678-Pyramidal Tracts, pubmed-meshheading:18513678-Synapsins, pubmed-meshheading:18513678-Syndrome
pubmed:year
2008
pubmed:articleTitle
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.
pubmed:affiliation
Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't