Human bile salt-stimulated lipase has a high frequency of size variation due to a hypervariable region in exon 11
Human bile salt-stimulated lipase has a high frequency of size variation due to a hypervariable region in exon 11
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DOI：
10.1046/j.0014-2956.2001.02666.x
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发表时间：
2002-02-01
期刊：
影响因子：
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通讯作者：
Hernell, O
中科院分区：
文献类型：
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作者：
Lindquist, S;Bläckberg, L;Hernell, O
母乳胆盐刺激脂肪酶（BSSL）的表观分子量因母亲而异。其分子基础尚不清楚，但间接证据表明差异存在于蛋白质C末端的重复区域。我们在这里报告说，多态性内的BSSL基因的外显子11是在牛奶中发现的BSSL的分子变异的解释。采用Southern印迹杂交技术对不同分子量BSSL的母亲进行BSSL基因分析，发现外显子11存在多态性。先前显示由16个几乎相同的重复序列组成，每个重复序列为33bp。我们检测到缺失，或者在一种情况下，插入相应的BSSL蛋白分子量的变化，发现在牛奶从各自的女人。此外，我们发现，56%，在295人研究，携带缺失或插入外显子11内的一个或两个等位基因的BSSL基因。因此，这是一个高变区，目前认为人类BSSL基因中的外显子11编码16个重复序列是一种过度简化，需要重新审视。BSSL分子量的自然变化可能具有临床意义。
The apparent molecular mass or human milk bile salt-stimulated lipase (BSSL) varies between mothers. The molecular basis for this is unknown, but indirect evidence has suggested the differences to reside in a region of repeats located in the C-terminal part of the protein. We here report that a polymorphism within exon 11 of the BSSL gene is the explanation for the molecular variants of BSSL found in milk. By Southern blot hybridization we analyzed the BSSL gene from mothers known to have BSSL of different molecular masses in their milk, A polymorphism was found within exon 11. previously shown to consist of 16 near identical repeats of 33 bp each. We detected deletions or, in one case, an insertion corresponding to the variation in molecular mass of the BSSL protein found in milk from the respective woman. Furthermore, we found that 56%, out of 295 individuals studied, carry deletions or insertions within exon 11 in one or both alleles of the BSSL gene. Hence, this is a hypervariable region and the current understanding that exon 11 in the human BSSL gene encodes 16 repeats is an oversimplification and needs to be revisited. Natural variation in the molecular mass of BSSL may have clinical implications.