Chromosomal assignment of the human thrombin receptor gene: localization to region q13 of chromosome 5.

Abstract:

: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).

journal_name

Blood

journal_title

Blood

authors

Bahou WF,Nierman WC,Durkin AS,Potter CL,Demetrick DJ

subject

Has Abstract

pub_date

1993-09-01 00:00:00

pages

1532-7

issue

5

eissn

0006-4971

issn

1528-0020

journal_volume

82

pub_type

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