THE SCL GENE IS FORMED FROM A TRANSCRIPTIONALLY COMPLEX LOCUS
THE SCL GENE IS FORMED FROM A TRANSCRIPTIONALLY COMPLEX LOCUS
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DOI：
10.1128/mcb.10.12.6426
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发表时间：
1990-12-01
影响因子：
5.3
通讯作者：
KIRSCH, IR
中科院分区：
文献类型：
--
作者：
APLAN, PD;BEGLEY, CG;KIRSCH, IR
我们描述了人类 SCL 基因的结构组织，该基因是螺旋-环-螺旋家族的成员，我们相信它在造血分化中发挥着重要作用。 SCL 基因座由分布在 16 kb 上的 8 个外显子组成。 SCL显示出一种非常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在某种程度上延伸到后期的发育阶段。对 SCL 基因座产生的转录本的详细分析表明，(i) SCL 转录本的 5'' 非编码部分位于 CpG 岛内，具有复杂的替代外显子利用模式以及两个不同的转录起始位点； (ii) SCL 转录物的 5'' 部分包含的特征表明这些片段可能具有调节作用； (iii) 5''外显子的利用模式取决于细胞谱系； (iv) 目前研究的所有影响 SCL 位点的染色体畸变在结构上或功能上消除了正常的 5'' 转录起始位点。这些数据表明，SCL 基因，特别是其 5'' 区域，可能是早期造血发育过程中调节相互作用的目标。
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 site. These data suggest that the SCL gene, and specifically its 5'' region, may be a target for regulatory interactions during early hematopoietic development.