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SCL基因由一个转录复杂的基因座形成。

The SCL gene is formed from a transcriptionally complex locus.

作者信息

Aplan P D, Begley C G, Bertness V, Nussmeier M, Ezquerra A, Coligan J, Kirsch I R

机构信息

Navy Medical Branch, National Cancer Institute, Bethesda, Maryland 20814.

出版信息

Mol Cell Biol. 1990 Dec;10(12):6426-35. doi: 10.1128/mcb.10.12.6426-6435.1990.

DOI:10.1128/mcb.10.12.6426-6435.1990
PMID:2247063
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC362919/
Abstract

We describe the structural organization of the human SCL gene, a helix-loop-helix family member which we believe plays a fundamental role in hematopoietic differentiation. The SCL locus is composed of eight exons distributed over 16 kb. SCL shows a pattern of expression quite restricted to early hematopoietic tissues, although in malignant states expression of the gene may be somewhat extended into later developmental stages. A detailed analysis of the transcript(s) arising from the SCL locus revealed that (i) the 5' noncoding portion of the SCL transcript, which resides within a CpG island, has a complex pattern of alternative exon utilization as well as two distinct transcription initiation sites; (ii) the 5' portions of the SCL transcript contain features that suggest a possible regulatory role for these segments; (iii) the pattern of utilization of the 5' exons is cell lineage dependent; and (iv) all of the currently studied chromosomal aberrations that affect the SCL locus either structurally or functionally eliminate the normal 5' transcription initiation sites. These data suggest that the SCL gene, and specifically its 5' region, may be a target for regulatory interactions during early hematopoietic development.

摘要

我们描述了人类SCL基因的结构组织，它是螺旋-环-螺旋家族成员，我们认为其在造血分化过程中发挥着重要作用。SCL基因座由分布在16kb上的八个外显子组成。SCL呈现出一种相当局限于早期造血组织的表达模式，尽管在恶性状态下该基因的表达可能会在一定程度上扩展到后期发育阶段。对源自SCL基因座的转录本进行的详细分析表明：（i）位于CpG岛内的SCL转录本的5'非编码部分，具有复杂的可变外显子利用模式以及两个不同的转录起始位点；（ii）SCL转录本的5'部分具有一些特征，表明这些片段可能具有调控作用；（iii）5'外显子的利用模式取决于细胞谱系；（iv）目前研究的所有在结构或功能上影响SCL基因座的染色体畸变均消除了正常的5'转录起始位点。这些数据表明，SCL基因，尤其是其5'区域，可能是早期造血发育过程中调控相互作用的靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/e274ceb3a465/molcellb00048-0344-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/2ba866dfe283/molcellb00048-0342-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/b9f6da40601b/molcellb00048-0343-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/6d7f58f702cf/molcellb00048-0344-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/e274ceb3a465/molcellb00048-0344-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/2ba866dfe283/molcellb00048-0342-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/b9f6da40601b/molcellb00048-0343-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/6d7f58f702cf/molcellb00048-0344-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ce9/362919/e274ceb3a465/molcellb00048-0344-b.jpg

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