COMPLETE GENOMIC SEQUENCE OF THE HUMAN RETINOBLASTOMA SUSCEPTIBILITY GENE

被引:135
作者
TOGUCHIDA, J
MCGEE, TL
PATERSON, JC
EAGLE, JR
TUCKER, S
YANDELL, DW
DRYJA, TP
机构
[1] MASSACHUSETTS EYE & EAR INFIRM,243 CHARLES ST,BOSTON,MA 02114
[2] HARVARD UNIV,SCH MED,DEPT OPHTHALMOL,BOSTON,MA 02115
关键词
D O I
10.1006/geno.1993.1368
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
A 180,388-bp contig encompassing the human retinoblastoma gene was sequenced in its entirety. Partial analysis of the sequence revealed (1) a high (A + T)/(G + C) ratio and a high density of Line-1 (L1) repeat sequences, suggesting that the locus maps to G-bands 13q14.12 or 13q14.2; (2) Alu repeats that are asymmetrically oriented over a region extending 87 kb; (3) an overabundance of non-Alu-associated poly(A) tracts 10 bp or larger oriented in the antisense rather than the sense direction (36 vs 6); (4) an Alu sequence nested within an L1 repeat, indicating that the expansion of L1 repeats predates at least some of the Alu expansions; (5) at least three newly discovered microsatellite polymorphisms, one of which was subsequently found to be identical to a polymorphism in a microsatellite-based linkage map of the human genome published by another group; and (6) the basis of previously discovered intragenic RFLPs. This sequence should enhance studies of this locus and of the organization of the human genome. © 1993 Academic Press. All rights reserved.
引用
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页码:535 / 543
页数:9
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