Evans P, Kemp J
Department of Pathology, University of Iowa College of Medicine, Iowa City, USA.
Gene. 1997 Oct 15;199(1-2):123-31. doi: 10.1016/s0378-1119(97)00356-9.
A PCR-based intron jumping strategy has been utilized to investigate the exon/intron structure of the human transferrin receptor gene and determine the sequences of exon/intron junctions. There are 18 exons and introns 5' to a large exon encoding the last translated segment and a sizable 3' untranslated segment. All of the translated segments are encoded by exons 2-19. The tight turn motif, which is critical to the process of endocytosis, is encoded by exon 3. Based on recent studies of human/chicken receptor chimeras, it appears that the residues most likely to be involved in transferrin binding are encoded by exons 17-19. Exon 12 exhibits the greatest degree of homology with the gene for the prostate specific membrane antigen. A polymorphism has been tentatively identified at nucleotide position 519 in exon 4; the presence of either adenine or guanine should result in either serine or glycine, respectively, at position 142 of the amino acid sequence. This analysis of genomic structure will permit further detailed studies of the regulation, expression and evolution of the human transferrin receptor gene.
一种基于聚合酶链反应（PCR）的内含子跳跃策略已被用于研究人类转铁蛋白受体基因的外显子/内含子结构，并确定外显子/内含子连接区的序列。在一个编码最后一个翻译片段和一个相当大的3'非翻译片段的大外显子的5'端有18个外显子和内含子。所有的翻译片段都由外显子2至19编码。对胞吞作用过程至关重要的紧密转角基序由外显子3编码。基于对人类/鸡受体嵌合体的最新研究，似乎最有可能参与转铁蛋白结合的残基由外显子17至19编码。外显子12与前列腺特异性膜抗原基因具有最高程度的同源性。在外显子4的核苷酸位置519处初步鉴定出一种多态性；腺嘌呤或鸟嘌呤的存在分别应导致氨基酸序列第142位为丝氨酸或甘氨酸。这种基因组结构分析将有助于对人类转铁蛋白受体基因的调控、表达和进化进行进一步的详细研究。
