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Structure of the human hexokinase type I gene and nucleotide sequence of the 5′ flanking region

机译:人I型己糖激酶基因结构和5'侧翼区核苷酸序列

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pThis study reports the precise intron/exon boundaries and intron/exon composition of the human hexokinase type I gene. A yeast artificial chromosome containing the hexokinase type I gene was isolated from the yeast artificial chromosome library of the Centre d9étude du Polymorphisme Humaine. A cosmid sublibrary was created and direct sequencing of the individual cosmids was used to provide the exon/intron organization. The human hexokinase type I gene was found to be composed of 18 exons ranging in size from 63 to 305 bp. Intron 1 is at least 15 kb in length, whereas intron 2 spans at least 10 kb. Overall, the length of the 17 introns ranges from 104 to greater than 15 kb. The entire coding region is contained in at least 75 kb of the gene. The structure of the gene reveals a remarkable conservation of the size of the exons compared with glucokinase and hexokinase type II. Isolation of the 5′ flanking region of the gene revealed a 75–90% identity with the rat sequence. Direct evidence of an alternative red-blood-cell-specific exon 1 located upstream of the 5′ flanking region of the gene is also provided./p
机译:>这项研究报告了人类I型己糖激酶基因的精确内含子/外显子边界和内含子/外显子组成。从中心多态性人类基因研究中心的酵母人工染色体文库中分离出含有I型己糖激酶的酵母人工染色体。创建了粘粒子库,并使用单个粘粒的直接测序来提供外显子/内含子组织。发现人I型己糖激酶基因由18个外显子组成,大小在63至305bp之间。内含子1的长度至少为15 kb,而内含子2的长度则至少为10 kb。总体而言,这17个内含子的长度范围从104到大于15kb。整个编码区包含在该基因的至少75kb中。与葡糖激酶和己糖激酶II型相比,该基因的结构揭示了显着的外显子大小保守性。基因5'侧翼区的分离显示与大鼠序列有75–90%的同一性。还提供了位于该基因5'侧翼区域上游的另一种红细胞特异性外显子1的直接证据。

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