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Biochem J. 1998 Apr 15;331 ( Pt 2)(Pt 2):607-13. doi: 10.1042/bj3310607.
2
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3
Structure of the 5' region of the human hexokinase type I (HKI) gene and identification of an additional testis-specific HKI mRNA.
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Genomics. 1991 May;10(1):133-42. doi: 10.1016/0888-7543(91)90493-x.
5
Structure of the human hexokinase type I gene.
Biochem Soc Trans. 1997 Feb;25(1):70S. doi: 10.1042/bst025070s.
6
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A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).与遗传性运动感觉神经病 -- Russe (HMSNR)相关的己糖激酶 1 外显子替代非翻译区的突变。
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本文引用的文献

1
Structure of the gene for type I hexokinase from rat.
Arch Biochem Biophys. 1997 Jul 15;343(2):207-14. doi: 10.1006/abbi.1997.0154.
2
Identification of the cDNA for human red blood cell-specific hexokinase isozyme.
Blood. 1997 Feb 1;89(3):762-6.
3
Isolation of the promoter for Type I hexokinase from rat.
Arch Biochem Biophys. 1996 Nov 1;335(1):161-72. doi: 10.1006/abbi.1996.0494.
4
Sequence of human hexokinase III cDNA and assignment of the human hexokinase III gene (HK3) to chromosome band 5q35.2 by fluorescence in situ hybridization.人己糖激酶III cDNA序列及通过荧光原位杂交将人己糖激酶III基因（HK3）定位于染色体5q35.2带
Genomics. 1996 Aug 15;36(1):206-9. doi: 10.1006/geno.1996.0448.
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Testis-specific expression of mRNAs for a unique human type 1 hexokinase lacking the porin-binding domain.一种独特的、缺乏孔蛋白结合结构域的人类1型己糖激酶的mRNA在睾丸中的特异性表达。
Mol Reprod Dev. 1996 May;44(1):14-22. doi: 10.1002/(SICI)1098-2795(199605)44:1<14::AID-MRD2>3.0.CO;2-W.
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Properties and localization of a tyrosine phosphorylated form of hexokinase in mouse sperm.小鼠精子中己糖激酶酪氨酸磷酸化形式的特性与定位
Mol Reprod Dev. 1996 Jan;43(1):82-93. doi: 10.1002/(SICI)1098-2795(199601)43:1<82::AID-MRD11>3.0.CO;2-6.
7
Functional organization of mammalian hexokinases: both N- and C-terminal halves of the rat type II isozyme possess catalytic sites.哺乳动物己糖激酶的功能组织：大鼠II型同工酶的N端和C端均具有催化位点。
Arch Biochem Biophys. 1996 May 1;329(1):17-23. doi: 10.1006/abbi.1996.0186.
8
Evolution of the type II hexokinase gene by duplication and fusion of the glucokinase gene with conservation of its organization.通过葡萄糖激酶基因的复制和融合以及其结构的保守性实现的II型己糖激酶基因的进化。
J Biol Chem. 1993 Apr 25;268(12):8422-4.
9
Hexokinase II mRNA and gene structure, regulation by insulin, and evolution.己糖激酶II的信使核糖核酸与基因结构、胰岛素调节作用及进化
J Biol Chem. 1993 Mar 5;268(7):5209-19.
10
Automated "hot start" PCR using mineral oil and paraffin wax.使用矿物油和石蜡的自动化“热启动”聚合酶链式反应
Biotechniques. 1993 Jan;14(1):30-4.

人I型己糖激酶基因的结构及5'侧翼区的核苷酸序列。

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

作者信息

Ruzzo A, Andreoni F, Magnani M

机构信息

'G.Fornaini' Institute of Biological Chemistry, University of Urbino, Via Saffi 2, 61029 Urbino, Italy.

出版信息

Biochem J. 1998 Apr 15;331 ( Pt 2)(Pt 2):607-13. doi: 10.1042/bj3310607.

DOI:10.1042/bj3310607
PMID:9531504
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1219395/
Abstract

This 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 d'Etude 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.

摘要

本研究报告了人类I型己糖激酶基因精确的内含子/外显子边界及内含子/外显子组成。从人类多态性研究中心的酵母人工染色体文库中分离出一个包含I型己糖激酶基因的酵母人工染色体。构建了一个黏粒亚文库，并通过对各个黏粒进行直接测序来确定外显子/内含子结构。结果发现，人类I型己糖激酶基因由18个外显子组成，大小从63至305 bp不等。内含子1长度至少为15 kb，内含子2跨度至少为10 kb。总体而言，17个内含子的长度在104至大于15 kb之间。整个编码区至少包含在该基因的75 kb区域内。与葡萄糖激酶和II型己糖激酶相比，该基因的结构显示出外显子大小的显著保守性。该基因5'侧翼区的分离结果显示，其与大鼠序列的同源性为75 - 90%。同时还提供了直接证据，证明在该基因5'侧翼区上游存在一个红细胞特异性的可变外显子1。