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牛(Bos taurus)和其他哺乳动物中DGAT2/MOGAT基因家族的基因组结构

Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.

作者信息

Winter A, van Eckeveld M, Bininda-Emonds O R P, Habermann F A, Fries R

机构信息

Lehrstuhl für Tierzucht der Technischen Universität München, München, Germany.

出版信息

Cytogenet Genome Res. 2003;102(1-4):42-7. doi: 10.1159/000075723.

Abstract

We report the cloning and initial characterization of the genes encoding DGAT2 (diacylglycerol transferase 2), MOGAT1 and MOGAT2 (monoacylglycerol transferases 1 and 2) in domestic cattle (Bos taurus). The three closely related genes belong to a gene family with at least eight members in mammals and are candidate genes for quantitative traits related to dietary fat uptake, lipid synthesis and storage. MOGAT2 and DGAT2 form a tandem and were mapped to bovine chromosome (BTA) 15q25-->q26 by fluorescence in situ hybridization. MOGAT1 was localized to BTA 2q43-->q44. The three genes were investigated for polymorphisms that might be associated with breeding values for milk fat percentage in the dairy breeds German Holstein, German Simmental and German Brown. All the detected polymorphisms were located outside exons or, with one exception, were silent. In MOGAT1, a missense mutation in exon 4 was found that causes a non-conservative substitution of cysteine170 (uncharged, hydrophobic) by lysine (positively charged, hydrophilic). However, allele frequency estimates from pooled DNA samples revealed no significant association of the observed polymorphisms with breeding values for milk fat percentage. A comparative analysis of chromosomal locations and exon-intron structure of the known members of the DGAT2/MOGAT gene family in humans, rodents and cattle indicates an ancient tandem duplication of the ancestor gene combined with an intron gain (or loss) in one copy. Further members of the family may have arisen by duplications of this gene tandem via two rounds of interchromosomal or genome duplications as well as further local (single) gene duplication and loss events.

摘要

我们报道了家牛(Bos taurus)中编码二酰基甘油转移酶2(DGAT2)、单酰基甘油转移酶1(MOGAT1)和单酰基甘油转移酶2(MOGAT2)的基因的克隆及初步特征分析。这三个密切相关的基因属于一个在哺乳动物中至少有八个成员的基因家族,是与膳食脂肪摄取、脂质合成和储存相关的数量性状的候选基因。MOGAT2和DGAT2形成串联,并通过荧光原位杂交定位到牛染色体(BTA)15q25→q26。MOGAT1定位到BTA 2q43→q44。对这三个基因进行了多态性研究,这些多态性可能与德国荷斯坦牛、德国西门塔尔牛和德国褐牛等奶牛品种的乳脂率育种值相关。所有检测到的多态性都位于外显子之外,或者除了一个例外,都是沉默的。在MOGAT1中,发现外显子4中有一个错义突变,导致第170位的半胱氨酸(不带电荷、疏水)被赖氨酸(带正电荷、亲水)非保守取代。然而,从混合DNA样本估计的等位基因频率显示,观察到的多态性与乳脂率育种值之间没有显著关联。对人类、啮齿动物和牛中DGAT2/MOGAT基因家族已知成员的染色体位置和外显子-内含子结构的比较分析表明,祖先基因发生了古老的串联重复,同时一个拷贝中出现了内含子增加(或丢失)。该家族的其他成员可能是通过两轮染色体间或基因组重复以及进一步的局部(单个)基因重复和丢失事件,由这个基因串联重复产生的。

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