Human mucin gene MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat - Structural evidence for a 11p15.5 gene family
Human mucin gene MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat - Structural evidence for a 11p15.5 gene family
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DOI：
10.1074/jbc.272.6.3168
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发表时间：
1997-02-07
影响因子：
4.8
通讯作者：
Laine, A
中科院分区：
文献类型：
--
作者：
Desseyn, JL;GuyonnetDuperat, V;Laine, A
人粘蛋白基因MUC 5 B与MUC 6、MUC 2和MUC 5AC一起定位在染色体11p15.5上。我们在这里报告的三个重叠的基因组克隆的人MUC 5 B跨越约40个酶的分离。我们已经确定了它们的部分限制性酶切图谱和编码单个开放阅读框的中心区域的内含子-外显子边界。该编码区已完全测序。其长度为10，713个碱基对，编码3570个氨基酸的肽。19个子域已个性化。一些子域显示出彼此的相似性，产生更大的复合重复单元，我们称之为超级重复。因此，在中心外显子内观察到528个氨基酸残基的四个超重复序列。每个包含（i）由29个氨基酸残基的不规则重复的11个重复组成的亚结构域，（ii）没有典型重复的独特保守亚结构域，和（iii）富含半胱氨酸的亚结构域。后一个亚结构域与MUC 2和MUC 5AC中描述的富含半胱氨酸的结构域具有高序列相似性。这三个基因的序列数据，以及它们的聚类组织，使我们认为它们可能是一个多基因家族的一部分。MUC 5 B中存在的超级重复序列是粘蛋白基因中有史以来最大的，并且该基因的中心外显子是迄今为止报道的脊椎动物基因中最大的。
Human mucin gene MUC5B is mapped clustered with MUC6, MUC2, and MUC5AC on chromosome 11p15.5. We report here the isolation of three overlapping genomic clones of human MUC5B spanning approximately 40 kilobases. We have determined their partial restriction maps and the intron-exon boundaries of the central region encoding a single open reading frame. This coding region has been completely sequenced. Its length is 10,713 base pairs, and it encodes a 3570-amino acid peptide. Nineteen subdomains have been individualized. Some subdomains show similarity to each other, creating larger composite repeat units that we have called super-repeats. Four super-repeats of 528 amino acid residues are thus observed within the central exon. Each comprises (i) a subdomain composed of 11 repeats of the irregular repeat of 29 amino acid residues, (ii) a unique conserved subdomain with no typical repeat, and (iii) a cysteine-rich subdomain. This latter subdomain has high sequence similarity to the cysteine-rich domains described in MUC2 and MUC5AC. Sequence data of these three genes, together with their clustered organization, lead us to suggest that they may be a part of a multigene family. The super-repeat present in MUC5B is the largest ever determined in mucin genes and the central exon of this gene is, by far, the largest reported for a vertebrate gene.