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Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.

作者信息

Barnard P J, Derry J M, Ryder-Cook A S, Zander N F, Kilimann M W

机构信息

MRC Molecular Neurobiology Unit, Medical Research Council Centre, Cambridge, England.

出版信息

Cytogenet Cell Genet. 1990;53(2-3):91-4. doi: 10.1159/000132902.

DOI:10.1159/000132902
PMID:1973380
Abstract

Phosphorylase kinase is a glycogenolytic enzyme in several animal tissues. Within the last few years all four subunits of the enzyme have been cloned. The beta, gamma, and delta subunits are known to be autosomal. We have mapped the alpha subunit of phosphorylase kinase, recently cloned by Zander et al. (1988), in an interspecific mouse pedigree and localized it on the X chromosome, where it maps between the X-linked zinc finger protein and phosphoglycerate kinase genes, close to the latter. In man and mouse several X-linked disorders of this enzyme have been described. Although the X-linked phosphorylase kinase deficiency in mice may be caused by a mutation in the structural gene for the alpha subunit, mapped here, the existence of a separate regulatory locus, important in the normal expression or function of the enzyme in muscle, still remains a possibility.

摘要

相似文献

1
Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.
Cytogenet Cell Genet. 1990;53(2-3):91-4. doi: 10.1159/000132902.
2
Mapping of a liver phosphorylase kinase alpha-subunit gene on the mouse X chromosome.
Genomics. 1993 Jan;15(1):191-3. doi: 10.1006/geno.1993.1031.
3
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.将人磷酸化酶激酶α亚基(PHKA)基因定位于Xq12-q13,β亚基(PHKB)基因定位于16q12-q13。
Am J Hum Genet. 1989 Aug;45(2):276-82.
4
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.因磷酸化酶激酶缺乏所致的X连锁肝糖原贮积症基因定位于人染色体Xp22区域。
Genomics. 1991 Apr;9(4):565-9. doi: 10.1016/0888-7543(91)90347-h.
5
X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice.小鼠部分磷酸化酶激酶缺乏症的X连锁显性遗传
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Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.
Cytogenet Cell Genet. 1992;60(3-4):194-6. doi: 10.1159/000133334.
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I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs.I/Lyn小鼠磷酸化酶激酶缺乏症:突变破坏α/α'-亚基mRNA的表达。
Proc Natl Acad Sci U S A. 1989 Dec;86(24):9996-10000. doi: 10.1073/pnas.86.24.9996.
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Comparison of the physical and recombination maps of the mouse X chromosome.小鼠X染色体物理图谱与重组图谱的比较。
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9
Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21.磷酸化酶激酶催化γ亚基编码基因定位于人类染色体带7p12 - q21。
Biochim Biophys Acta. 1990 Jan 30;1048(1):24-9. doi: 10.1016/0167-4781(90)90017-v.
10
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
Genetic deficiencies of the glycogen phosphorylase system.糖原磷酸化酶系统的遗传缺陷。
Hum Genet. 1996 May;97(5):551-6. doi: 10.1007/BF02281858.
2
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.
3
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.磷酸化酶激酶的分子遗传学:cDNA克隆、染色体定位及同工型结构
J Inherit Metab Dis. 1990;13(4):435-41. doi: 10.1007/BF01799500.
4
Comparative map for mice and humans.小鼠与人类的比较图谱。
Mamm Genome. 1991;1 Spec No:S461-515. doi: 10.1007/BF00656504.
5
Mouse X chromosome.小鼠X染色体。
Mamm Genome. 1991;1 Spec No:S318-31. doi: 10.1007/BF00656501.
6
Mouse X chromosome.小鼠X染色体。
Mamm Genome. 1992;3 Spec No:S274-88. doi: 10.1007/BF00648438.
7
Comparative map for mice and humans.小鼠与人类的比较图谱。
Mamm Genome. 1992;3(9):480-536. doi: 10.1007/BF00778825.
8
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.