Genomic organization of human MXI1, a putative tumor suppressor gene.
Genomic organization of human MXI1, a putative tumor suppressor gene.
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人类 MXI1（一种假定的肿瘤抑制基因）的基因组结构。
DOI：
10.1006/geno.1996.0144
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发表时间：
1996
期刊：
影响因子：
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通讯作者：
Dang,CV
中科院分区：
文献类型：
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作者：
Wechsler,DS;Shelly,CA;Dang,CV
MXI1是MYC转录因子家族中的一员，被认为是负调控MYC功能的基因，因此可能是一个潜在的肿瘤抑制基因。利用详细的限制性内切酶图谱和部分DNA测序分析，我们已经确定了人MXI1基因的基因组组织，以便于寻找影响MXI1功能的突变。该基因位于染色体10q24-q25上，约60kb，由6个外显子组成。这些外显子与先前发现的Mxi1功能区的对应关系表明，选择性剪接的转录本可能调节Mxi1的功能活性。外显子2中隐匿的ATG起始密码子的存在表明，缺失SIN3相互作用结构域(外显子1)的功能蛋白可能是通过选择性剪接产生的。最后，我们在MXI1基因座上发现了两个多态区域：第三内含子的多态CA重复序列和外显子6非编码区的AAAAC多态。这些发现将有助于分析MXI1编码和调控序列中存在的失活突变。
MXI1,a member of theMYCfamily of transcription factors, is thought to negatively regulateMYCfunction and may therefore be a potential tumor suppressor gene. Using detailed restriction mapping and partial DNA sequencing analysis, we have determined the genomic organization of the humanMXI1gene to facilitate a search for mutations that affectMXI1function. The gene spans a region of approximately 60 kb on chromosome 10q24–q25 and comprises six exons. The correspondence of these exons to previously identified Mxi1 functional domains suggests that alternatively spliced transcripts may regulate Mxi1 functional activity. The presence of a cryptic ATG start codon in exon 2 suggests that a functional protein missing the SIN3-interacting domain (exon 1) may be generated by alternative splicing. Finally, we have identified two polymorphic regions within theMXI1locus: a polymorphic CA repeat in the third intron and an AAAAC polymorphism in the noncoding region of exon 6. These findings will facilitate the analysis of tumors for the presence of inactivating mutations inMXI1coding and regulatory sequences.