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兔κ-酪蛋白基因两个含微卫星的、与长散在核元件相关的内含子区域中1550nt和100nt的多态性插入/缺失。

Polymorphic insertions/deletions of both 1550nt and 100nt in two microsatellite-containing, LINE-related intronic regions of the rabbit kappa-casein gene.

作者信息

Hiripi L, Devinoy E, Rat P, Baranyi M, Fontaine M L, Bösze Z

机构信息

Institute of Animal Science, Agricultural Biotechnology Center, Gödöllö, Hungary.

出版信息

Gene. 1998 Jun 15;213(1-2):23-30. doi: 10.1016/s0378-1119(98)00218-2.

DOI:10.1016/s0378-1119(98)00218-2
PMID:9630490
Abstract

The most frequent allele of the rabbit kappa-casein (kappa-Cas)-encoding gene (A allele) has previously been shown to possess two sequences similar to those found in the 5' end of long interspersed repeated elements (LINE). Part of an inverted rabbit LINE is present in the first intron and part of a direct rabbit LINE in the fourth intron. We describe herewith a less frequent allele (B allele) that lacks both 100bp in the first intron and 1550bp in the fourth intron. It was not possible to identify any allele exhibiting only one of the deletions in a population of 55 rabbits. The 100bp present in the first intron of the A allele, but absent from the B allele, are located at the 5' end of the inverse complementary LINE and include the poly (T) track of the LINE. The 1550bp present in the fourth intron of the A allele, but absent from the B allele, include the entire direct LINE sequence. Therefore, the B allele only possesses one partial LINE sequence that is located in the first intron and is truncated when compared to the copy found in the first intron of the A allele. The B allele might thus be more recent than the A allele. Differences between the sequences of transcripts corresponding to each allele are limited to two silent mutations and three modifications in the 3' UTR. In the mammary glands of lactating rabbits, which are homozygous for both alleles, kappa-Cas mRNA accumulate to similar levels and are translated into identical kappa-Cas that are secreted at similar concentrations into milk.

摘要

兔κ-酪蛋白(κ-Cas)编码基因最常见的等位基因(A等位基因)先前已被证明拥有两个与长散在重复元件(LINE)5'端发现的序列相似的序列。一个反向兔LINE的部分存在于第一个内含子中,一个正向兔LINE的部分存在于第四个内含子中。我们在此描述了一个较不常见的等位基因(B等位基因),它在第一个内含子中缺少100bp,在第四个内含子中缺少1550bp。在55只兔子的群体中,不可能鉴定出仅表现出其中一个缺失的任何等位基因。A等位基因第一个内含子中存在但B等位基因中不存在的100bp位于反向互补LINE的5'端,包括LINE的聚(T)序列。A等位基因第四个内含子中存在但B等位基因中不存在的1550bp包括整个正向LINE序列。因此,B等位基因仅拥有一个位于第一个内含子中的部分LINE序列,与在A等位基因第一个内含子中发现的拷贝相比,该序列被截断。因此,B等位基因可能比A等位基因更新。对应于每个等位基因的转录本序列之间的差异仅限于两个沉默突变和3'UTR中的三个修饰。在对这两个等位基因均为纯合的泌乳兔乳腺中,κ-Cas mRNA积累到相似水平,并被翻译成相同的κ-Cas,以相似浓度分泌到乳汁中。

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