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编码磷酸化酶激酶γ亚基（PHKG1）肌肉同工型的人互补DNA。

Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).

作者信息

Wehner M, Kilimann M W

机构信息

Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Germany.

出版信息

Hum Genet. 1995 Nov;96(5):616-8. doi: 10.1007/BF00197422.

DOI:10.1007/BF00197422
PMID:8530014
Abstract

Muscle glycogenosis caused by phosphorylase kinase (Phk) deficiency may lead to exercise intolerance, weakness and musculatur atrophy. The gene encoding the muscle isoform of the Phk gamma subunit (gamma M) is one of the candidate genes in which mutations responsible for this condition should be sought. Here, we report the cDNA sequence and the predicted primary structure of the human gamma M subunit.

摘要

由磷酸化酶激酶（Phk）缺乏引起的肌肉糖原贮积症可能导致运动不耐受、肌无力和肌肉萎缩。编码Phkγ亚基肌肉同工型（γM）的基因是其中应寻找导致这种病症的突变的候选基因之一。在此，我们报告人γM亚基的cDNA序列和预测的一级结构。

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1
Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).编码磷酸化酶激酶γ亚基（PHKG1）肌肉同工型的人互补DNA。
Hum Genet. 1995 Nov;96(5):616-8. doi: 10.1007/BF00197422.
2
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.磷酸化酶激酶活性低的肌肉糖原贮积症：PHKA1、PHKG1或其他六个候选基因中的突变仅解释了少数病例。
Eur J Hum Genet. 2003 Jul;11(7):516-26. doi: 10.1038/sj.ejhg.5200996.
3
Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.编码人肝脏磷酸化酶激酶α亚基（PHKA2）的cDNA的分离及在一个肝脏磷酸化酶激酶缺乏家族中PHKA2基因错义突变的鉴定。
Biochem Mol Biol Int. 1995 Jul;36(3):505-11.
4
Molecular cloning and enzymatic analysis of the rat homolog of "PhK-gamma T," an isoform of phosphorylase kinase catalytic subunit.磷酸化酶激酶催化亚基的一种同工型“PhK-γT”的大鼠同源物的分子克隆及酶学分析
J Biol Chem. 1992 Jan 25;267(3):1455-63.
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Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice.小鼠肌肉磷酸化酶激酶催化性γ亚基cDNA克隆的分离：正常和突变型Phk小鼠中mRNA的表达
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Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.磷酸化酶激酶γ亚基（PHKG2）睾丸/肝脏同工型的突变在gsd大鼠和人类中导致常染色体性肝糖原贮积病。
Nat Genet. 1996 Nov;14(3):337-40. doi: 10.1038/ng1196-337.
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Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.由于磷酸化酶激酶缺乏引起的肝糖原累积症：PHKG2基因结构及与肝硬化相关的突变
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Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.由于磷酸化酶激酶缺乏导致的人类肌肉糖原贮积症，与α亚基肌肉异构体中的无义突变相关。
Hum Mol Genet. 1994 Nov;3(11):1983-7. doi: 10.1093/hmg/3.11.1983.
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Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).编码磷酸化酶激酶β亚基（PHKB）的人类基因结构。
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cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.磷酸化酶激酶α亚基肝脏异构体的cDNA克隆及该基因定位于Xp22.2-p22.1，即人类X连锁肝脏糖原贮积症区域。
Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2096-100. doi: 10.1073/pnas.89.6.2096.

引用本文的文献

1
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.I型和II型X连锁肝糖原贮积症患者中PHKA2的完整基因组结构和突变谱
Am J Hum Genet. 1999 Jun;64(6):1541-9. doi: 10.1086/302399.

本文引用的文献

1
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.I系小鼠中的磷酸化酶激酶缺乏与α亚基肌肉同工型中的移码突变有关。
Nat Genet. 1993 Dec;5(4):381-5. doi: 10.1038/ng1293-381.
2
The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.磷酸化酶激酶αM和αL亚基的多磷酸化结构域是差异mRNA加工和分子进化的热点。
J Biol Chem. 1993 Nov 5;268(31):23208-14.
3
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.
Neurology. 1994 Mar;44(3 Pt 1):461-6. doi: 10.1212/wnl.44.3_part_1.461.
4
The gamma phosphorylase kinase gene, Phkg, maps to mouse chromosome 5 near Gus.γ磷酸化酶激酶基因Phkg定位于小鼠5号染色体上靠近Gus的位置。
Mamm Genome. 1994 Jan;5(1):15-8. doi: 10.1007/BF00360562.
5
Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.
J Inherit Metab Dis. 1994;17(1):153-5. doi: 10.1007/BF00735424.
6
Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.从16号染色体hn-cDNA文库中分离和鉴定转录序列，以及使用人类16号染色体高分辨率体细胞嵌板对基因和转录序列进行物理图谱绘制。
Genomics. 1994 Mar 15;20(2):169-75. doi: 10.1006/geno.1994.1150.
7
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.由于磷酸化酶激酶缺乏导致的人类肌肉糖原贮积症，与α亚基肌肉异构体中的无义突变相关。
Hum Mol Genet. 1994 Nov;3(11):1983-7. doi: 10.1093/hmg/3.11.1983.
8
Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.
Exp Mol Pathol. 1983 Jun;38(3):405-20. doi: 10.1016/0014-4800(83)90080-1.
9
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.一名患有磷酸化酶激酶缺乏症女孩的婴儿型糖原贮积性肌病。
Neurology. 1982 Aug;32(8):833-8. doi: 10.1212/wnl.32.8.833.
10
Skeletal muscle phosphorylase kinase catalytic subunit mRNAs are expressed in heart tissue but not in liver.骨骼肌磷酸化酶激酶催化亚基mRNA在心脏组织中表达，但在肝脏中不表达。
J Biol Chem. 1987 Jun 25;262(18):8799-805.