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人类6-磷酸果糖-1-激酶基因在起始密码子上游有一个额外的内含子。

Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon.

作者信息

Valdez B C, Chen Z, Sosa M G, Younathan E S, Chang S H

机构信息

Department of Biochemistry, Louisiana State University, Baton Rouge 70803.

出版信息

Gene. 1989 Mar 15;76(1):167-9. doi: 10.1016/0378-1119(89)90019-x.

DOI:10.1016/0378-1119(89)90019-x
PMID:2526044
Abstract

A 6-phosphofructo-1-kinase-coding gene (pfk) has been purified from a human genomic library cloned in the lambda EMBL4 phage vector. This clone contains the nontranslated 5' flanking region of the human muscle pfk gene. Comparison of the nucleotide sequence determined by us with that of the human muscle pfk cDNA [Nakajima et al., FEBS Lett. 223 (1987) 113-116] indicates the presence of an additional intron extending from nucleotide (nt) -97 to -9 upstream of the ATG start codon. Furthermore, the human muscle pfk gene is more AT-rich than the rabbit gene. The available sequence of the two cDNAs shows 256 nt differences. Surprisingly, 71% of these sites are A's and T's in the human cDNA and C's and G's in the rabbit gene.

摘要

已从克隆于λEMBL4噬菌体载体的人类基因组文库中纯化出一个6-磷酸果糖-1-激酶编码基因(pfk)。该克隆包含人类肌肉pfk基因的非翻译5'侧翼区。我们测定的核苷酸序列与人类肌肉pfk cDNA的核苷酸序列[中岛等人,《欧洲生物化学学会联合会快报》223(1987)113 - 116]比较表明,在ATG起始密码子上游从核苷酸(nt)-97至-9处存在一个额外的内含子。此外,人类肌肉pfk基因比兔基因富含更多的AT。两个cDNA的可用序列显示有256个核苷酸差异。令人惊讶的是,这些位点中有71%在人类cDNA中是A和T,而在兔基因中是C和G。

相似文献

1
Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon.人类6-磷酸果糖-1-激酶基因在起始密码子上游有一个额外的内含子。
Gene. 1989 Mar 15;76(1):167-9. doi: 10.1016/0378-1119(89)90019-x.
2
Comparison of 5' region sequences of human and rabbit phosphofructokinase genes.人类和兔磷酸果糖激酶基因5'区域序列的比较
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Sequence diversity in the 5' untranslated region of rabbit muscle phosphofructokinase mRNA.
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Genomic organization, 5'flanking region and tissue-specific expression of mouse phosphofructokinase C gene.小鼠磷酸果糖激酶C基因的基因组结构、5'侧翼区域及组织特异性表达
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The rabbit muscle phosphofructokinase gene: cDNA cloning and sequencing.兔肌肉磷酸果糖激酶基因:cDNA克隆与测序
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Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.人酸性α-葡萄糖苷酶的cDNA及5'侧翼区序列、5'非翻译前导序列中内含子的检测、18碱基多态性的定义以及与先前cDNA和氨基酸序列的差异
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Cloning and expression of a human muscle phosphofructokinase cDNA.
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引用本文的文献

1
Alteration of the levels of the M-type 6-phosphofructo-1-kinase mRNA isoforms during neonatal maturation of heart, brain and muscle.
Mol Cell Biochem. 2000 Nov;214(1-2):81-7. doi: 10.1023/a:1007195017569.
2
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.瑞典一个家族中的VII型糖原贮积病(Tarui病):肌肉磷酸果糖激酶基因(PFK-M)的两个新突变导致内含子保留。
Am J Hum Genet. 1996 Jul;59(1):59-65.
3
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.患有糖原累积症VII型的阿什肯纳兹犹太患者中磷酸果糖激酶-M基因的常见突变及其群体频率。
Am J Hum Genet. 1994 Aug;55(2):305-13.
4
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.人突变型磷酸果糖激酶在酵母中的功能表达:法裔加拿大和瑞士磷酸果糖激酶缺乏症患者的基因缺陷
Am J Hum Genet. 1995 Jan;56(1):131-41.
5
Novel clustering of Sp1 transcription factor binding sites at the transcription initiation site of the human muscle phosphofructokinase P1 promoter.人类肌肉磷酸果糖激酶P1启动子转录起始位点处Sp1转录因子结合位点的新型聚类
Nucleic Acids Res. 1994 Nov 25;22(23):5085-92. doi: 10.1093/nar/22.23.5085.
6
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.在患有塔瑞氏病的阿什肯纳兹犹太患者中,磷酸果糖激酶肌肉亚基基因的无义突变与其中一个分离转录本中内含子10的保留有关。
Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10322-6. doi: 10.1073/pnas.92.22.10322.
7
New nucleotide sequence data on the EMBL File Server.欧洲分子生物学实验室文件服务器上的新核苷酸序列数据。
Nucleic Acids Res. 1989 Sep 12;17(17):7127-46. doi: 10.1093/nar/17.17.7127.