Complete genomic sequence of the human retinoblastoma susceptibility gene.
Complete genomic sequence of the human retinoblastoma susceptibility gene.
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DOI：
10.1006/geno.1993.1368
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发表时间：
1993-09
期刊：
影响因子：
4.4
通讯作者：
Junya Toguchida;T. L. McGee;Jennifer C. Paterson;Janine R. Eagle;Stephanie Tucker;D. Yandell;T. Dryja
中科院分区：
文献类型：
--
作者：
Junya Toguchida;T. L. McGee;Jennifer C. Paterson;Janine R. Eagle;Stephanie Tucker;D. Yandell;T. Dryja
对包含人视网膜母细胞瘤基因的180，388-bp重叠群进行完整测序。部分序列分析表明：（1）（A+T）/（G+C）比值高，Line 1（L1）重复序列密度高，表明该基因定位于13q14.12或13q14.2的G带;（3）非Alu相关的poly（A）片段（10 bp或更大）以反义方向而不是有义方向（36 vs 6）过量;（4）Alu序列嵌套在L1重复序列中，表明L1重复序列的扩增至少早于一些Alu扩增;（5）至少三个新发现的微卫星多态性，其中一个随后被发现与另一组发表的基于微卫星的人类基因组连锁图中的多态性相同;和（6）先前发现的基因内RFLPs的基础。这一序列将加强对该基因座和人类基因组组织的研究。
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.