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

作者信息

Geng Y, Derry J M, Hendrickx J, Coucke P, Willems P R, Barnard P J

机构信息

MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, United Kingdom.

出版信息

Genomics. 1993 Jan;15(1):191-3. doi: 10.1006/geno.1993.1031.

DOI:10.1006/geno.1993.1031
PMID:8432533
Abstract

Phosphorylase kinase (PHK) is a regulatory enzyme of the glycogenolytic pathway composed of a complex of four subunits. We recently mapped the muscle alpha-subunit gene (Phka) to the mouse X chromosome in a region syntenic with the proximal long arm of the human X chromosome and containing the human homologue of this gene, PHKA. We now report the mapping of the liver alpha-subunit gene to the telomeric end of the mouse X chromosome. This mapping position would suggest a location for the human liver alpha-subunit gene on the proximal short arm of the X chromosome, a region recently implicated in X-linked liver glycogenosis (XLG).

摘要

相似文献

1
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.
2
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.
3
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.
4
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.
5
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.
6
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.X连锁II型肝糖原贮积症（XLG II）由PHKA2基因突变引起，该基因编码磷酸化酶激酶的肝脏α亚基。
Hum Mol Genet. 1996 May;5(5):649-52. doi: 10.1093/hmg/5.5.649.
7
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.
8
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.
9
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.
10
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).一种新型X连锁肝糖原贮积症定位于染色体区域Xp22，该区域含有磷酸化酶激酶（PHKA2）的肝脏α亚基。
Genomics. 1994 Jun;21(3):620-5. doi: 10.1006/geno.1994.1322.

引用本文的文献

1
In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1.磷酸化酶激酶的计算机模拟表征：PHKG1中一个替代性内含子聚腺苷酸化位点的证据。
Mol Genet Metab. 2007 Nov;92(3):234-42. doi: 10.1016/j.ymgme.2007.06.015. Epub 2007 Aug 9.
2
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.