Wöhlke Anne, Drögemüller Cord, Kuiper Heidi, Leeb Tosso, Distl Ottmar
Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17 p, 30559 Hannover, Germany.
Gene. 2005 Mar 28;348:73-81. doi: 10.1016/j.gene.2004.12.038.
The mammalian glycinamide ribonucleotide formyltransferase (GART) genes encode a trifunctional polypeptide involved in the de novo purine biosynthesis. We isolated a bacterial artificial chromosome (BAC) clone containing the bovine GART gene and determined the complete DNA sequence of the BAC clone. Cloning and characterization of the bovine GART gene revealed that the bovine gene consists of 23 exons spanning approximately 27 kb. RT-PCR amplification of bovine GART in different organs showed the expression of two GART transcripts in cattle similar to human and mouse. The GART transcripts encode two proteins of 1010 and 433 amino acids, respectively. Eleven single nucleotide polymorphisms (SNPs) were detected in a mutation scan of 24 unrelated animals of three different cattle breeds, including one SNP that affects the amino acid sequence of GART. The chromosomal localization of the gene was determined by fluorescence in situ hybridization. Comparative genome analysis between cattle, human and mouse indicates that the chromosomal location of the bovine GART gene is in agreement with a previously published mapping report.
哺乳动物甘氨酰胺核糖核苷酸甲酰基转移酶（GART）基因编码一种参与嘌呤从头生物合成的三功能多肽。我们分离出一个包含牛GART基因的细菌人工染色体（BAC）克隆，并确定了该BAC克隆的完整DNA序列。牛GART基因的克隆与特性分析表明，牛基因由23个外显子组成，跨度约为27 kb。对牛不同器官中GART进行逆转录聚合酶链反应（RT-PCR）扩增，结果显示牛体内有两种GART转录本表达，这与人类和小鼠相似。这些GART转录本分别编码两种蛋白质，氨基酸数量分别为1010个和433个。在对三个不同牛品种的24只无亲缘关系动物进行突变扫描时，检测到11个单核苷酸多态性（SNP），其中一个SNP会影响GART的氨基酸序列。通过荧光原位杂交确定了该基因的染色体定位。牛、人类和小鼠之间的比较基因组分析表明，牛GART基因的染色体定位与之前发表的图谱报告一致。
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