Linked Life Data

10477733

Source:http://linkedlifedata.com/resource/pubmed/id/10477733

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1999-10-12
pubmed:databankReference
pubmed:abstractText
alphaIIbb3 integrin is a heterodimeric receptor facilitating platelet aggregation. Both genes are on chromosome 17q21.32. Intergenic distance between them has been reported to be 125 to 260 kilobasepairs (kb) by pulsed-field gel electrophoresis (PFGE) genomic analysis, suggesting that they may be regulated coordinately during megakaryopoiesis. In contrast, other studies suggest these genes are greater than 2.0 megabasepairs (mb) apart. Because of the potential biological implications of having these two megakaryocytic-specific genes contiguous, we attempted to resolve this discrepancy. Taking advantage of large kindreds with mutations in either alphaIIb or beta3, we have developed a genetic linkage map between the thyroid receptor hormone-1 gene (THRA1) and beta3 as follows: cen-THRA1-BRCA1-D17S579/alphaIIb-beta3-qte r, with a distance of 1.3 centiMorgans (cM) between alphaIIb and beta3 and the two genes being oriented in the same direction. PFGE genomic and YAC clone analysis showed that the beta3 gene is distal and >/=365 kb upstream of alphaIIb. Additional restriction mapping shows alphaIIb is linked to the erythrocyte band 3 (EPB3) gene, and beta3 to the homeobox HOX2b gene. Analysis of alphaIIb(+)-BAC and P1 clones confirm that the EPB3 gene is approximately 110 kb downstream of the alphaIIb gene. Sequencing the region surrounding the human alphaIIb locus showed the Granulin gene approximately 18 kb downstream to alphaIIb, and the KIAA0553 gene approximately 5.7 kb upstream. This organization is conserved in the murine sequence. These studies show that alphaIIb and beta3 are not closely linked, with alphaIIb flanked by nonmegakaryocytic genes, and imply that they are unlikely to share common regulatory domains during megakaryopoiesis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2039-47
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:10477733-Anion Exchange Protein 1, Erythrocyte, pubmed-meshheading:10477733-Antigens, CD, pubmed-meshheading:10477733-Arabs, pubmed-meshheading:10477733-Chromosome Mapping, pubmed-meshheading:10477733-Chromosomes, Artificial, Yeast, pubmed-meshheading:10477733-Chromosomes, Human, Pair 17, pubmed-meshheading:10477733-Exons, pubmed-meshheading:10477733-Female, pubmed-meshheading:10477733-Genetic Linkage, pubmed-meshheading:10477733-Genetic Markers, pubmed-meshheading:10477733-Humans, pubmed-meshheading:10477733-Integrin beta3, pubmed-meshheading:10477733-Introns, pubmed-meshheading:10477733-Iraq, pubmed-meshheading:10477733-Israel, pubmed-meshheading:10477733-Jews, pubmed-meshheading:10477733-Male, pubmed-meshheading:10477733-Pedigree, pubmed-meshheading:10477733-Platelet Glycoprotein GPIIb-IIIa Complex, pubmed-meshheading:10477733-Platelet Membrane Glycoproteins, pubmed-meshheading:10477733-Restriction Mapping
pubmed:year
1999
pubmed:articleTitle
The human platelet alphaIIb gene is not closely linked to its integrin partner beta3.
pubmed:affiliation
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't