THE IL-9 RECEPTOR GENE (IL9R) - GENOMIC STRUCTURE, CHROMOSOMAL LOCALIZATION IN THE PSEUDOAUTOSOMAL REGION OF THE LONG ARM OF THE SEX-CHROMOSOMES, AND IDENTIFICATION OF IL9R PSEUDOGENES AT 9QTER, 10PTER, 16PTER, AND 18PTER

被引:66
作者
KERMOUNI, A
VANROOST, E
ARDEN, KC
VERMEESCH, JR
WEISS, S
GODELAINE, D
FLINT, J
LURQUIN, C
SZIKORA, JP
HIGGS, DR
MARYNEN, P
RENAULD, JC
机构
[1] LUDWIG INST CANC RES,B-1200 BRUSSELS,BELGIUM
[2] CATHOLIC UNIV LEUVEN,EXPTL MED UNIT,BRUSSELS,BELGIUM
[3] LUDWIG INST CANC RES,SAN DIEGO,CA
[4] UNIV CALIF SAN DIEGO,DEPT MED,SAN DIEGO,CA 92103
[5] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,B-3000 LOUVAIN,BELGIUM
[6] JOHN RADCLIFFE HOSP,INST MOLEC MED,MRC,MOLEC HAEMATOL UNIT,HEADINGTON,ENGLAND
关键词
D O I
10.1006/geno.1995.9992
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Cosmids containing the human IL-9 receptor (R) gene (IL9R) have been isolated from a genomic library using the IL9R cDNA as a probe. We have shown that the human IL9R gene is composed of 11 exons and 10 introns, stretching over similar to 17 kb, and is located within the pseudoautosomal region of the Xq and Yq chromosome, in the vicinity of the telomere. Analysis of the 5' flanking region revealed multiple transcription initiation sites as well as potential binding motifs for AP1, AP2, AP3, Sp1, and NF-kB, although this region lacks a TATA box. Using the human IL9R cosmid as a probe to perform fluorescence in situ hybridization, additional signals were identified in the subtelomeric regions of chromosomes 9q, 10p, 16p, and 18p. IL9R homologs located on chromosomes 9 and 18 were partially characterized, while those located on chromosomes 16 and 10 were completely sequenced. Although they are similar to the IL9R gene (similar to 90% identity), none of these copies encodes a functional receptor: none of them contains sequences homologous to the 5' flanking region or exon 1 of the IL9R gene, and the remaining ORFs have been inactivated by various point mutations and deletions. Taken together, our results indicate that the IL9R. gene is located at Xq28 and Yq12, in the long arm pseudoautosomal region, and that four IL9R pseudogenes are located on 9q34, 10p15, 16p13.3, and 18p11.3, probably dispersed as the result of translocations during evolution. (C) 1995 Academic Press, Inc.
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页码:371 / 382
页数:12
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