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Chromosomal assignment of the human thrombin receptor gene: localization to
region q13 of chromosome 5
WF Bahou, WC Nierman, AS Durkin, CL Potter and DJ Demetrick
Department of Medicine, State University of New York, Stony Brook 11794-
8151.
A functional thrombin receptor (TR) structurally related to other members
of the seven-transmembrane receptor family has been isolated from diverse
cellular types intimately involved in the regulation of the thrombotic
response. This receptor recapitulates many of the previously identified
sequelae of thrombin-mediated cell activation phenomenon, and requires
proteolytic cleavage for downstream effector- response coupling events.
Using two complementary approaches, we have now completed the chromosomal
assignment of the human thrombin receptor gene. Discordancy analysis of
polymerase chain reaction products from a human-rodent hybrid cell mapping
panel assigned the sequence to human chromosome 5 with no observed
discordancies. Cytogenetic localization using fluorescence in situ
hybridization on human metaphase chromosomes specifically localized the
human TR gene to region q13 of chromosome 5, confirming its presence as a
single-locus gene in the human genome. The chromosomal localization of the
human TR gene is at or contiguous with the proximal breakpoint site
identified in the majority of patients with the 5q- syndrome
(dysmegakaryocytopoiesis and refractory anemia).
Volume 82,
Issue 5,
pp. 1532-1537,
09/01/1993
Copyright © 1993 by The American Society of Hematology
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