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将人类1-磷酸半乳糖尿苷酰转移酶基因定位于9号染色体：对中国仓鼠-人类体细胞杂种的研究

Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

作者信息

Mohandas T, Sparkes R S, Sparkes M C, Shulkin J D

出版信息

Proc Natl Acad Sci U S A. 1977 Dec;74(12):5628-31. doi: 10.1073/pnas.74.12.5628.

DOI:10.1073/pnas.74.12.5628
PMID:271990
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC431837/
Abstract

Chinese hamster-human somatic cell hybrids were analyzed for the expression of human galactose-1-phosphate uridyltransferase (GALT; UDPglucose:alpha-D-galactose-1-phosphate uridyltransferase, EC 2.7.7.12) by electrophoresis and for the presence of human chromosomes cytogenetically with the aid of Q-banding. Three of the 10 randomly chosen independently derived primary hybrid lines showed the presence of human GALT. Human chromosome 9 was consistently present in the hybrid lines expressing human GALT and consistently absent in the lines not expressing it. Biochemical analysis alone of 11 independently derived hybrid lines showed human GALT to be syntenic with known chromosome 9 markers (soluble aconitase, adenylate kinase 1, and adenylate kinase 3). Previous studies on chromosome assignment of this locus, utilizing somatic cell hybrids, have yielded inconsistent results; one group assigned GALT to chromosome 2, and another assigned it to chromosome 3. However, we believe that, based on our results and other published evidence, the correct assignment of the human GALT locus is to chromosome 9.

摘要

通过电泳分析中国仓鼠 - 人类体细胞杂种中人类1 - 磷酸半乳糖尿苷转移酶（GALT；尿苷二磷酸葡萄糖：α - D - 半乳糖 - 1 - 磷酸尿苷转移酶，EC 2.7.7.12）的表达，并借助Q带技术通过细胞遗传学方法检测人类染色体的存在情况。在随机选择的10个独立衍生的初代杂种细胞系中，有3个显示存在人类GALT。人类9号染色体在表达人类GALT的杂种细胞系中始终存在，而在不表达的细胞系中始终不存在。对11个独立衍生的杂种细胞系仅进行生化分析表明，人类GALT与已知的9号染色体标记（可溶性乌头酸酶、腺苷酸激酶1和腺苷酸激酶3）是同线的。以往利用体细胞杂种对该基因座进行染色体定位的研究结果并不一致；一组将GALT定位于2号染色体，另一组则将其定位于3号染色体。然而，基于我们的研究结果和其他已发表的证据，我们认为人类GALT基因座的正确定位是9号染色体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9198/431837/f5824d9b5c91/pnas00043-0438-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9198/431837/4ea864e3282f/pnas00043-0438-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9198/431837/f5824d9b5c91/pnas00043-0438-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9198/431837/4ea864e3282f/pnas00043-0438-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9198/431837/f5824d9b5c91/pnas00043-0438-b.jpg

相似文献

1
Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.将人类1-磷酸半乳糖尿苷酰转移酶基因定位于9号染色体：对中国仓鼠-人类体细胞杂种的研究
Proc Natl Acad Sci U S A. 1977 Dec;74(12):5628-31. doi: 10.1073/pnas.74.12.5628.
2
Expression of galactose-1-p-uridyltransferase in Chinese hamster x human galactosemia somatic cell hybrids.半乳糖-1-磷酸尿苷酰转移酶在中国仓鼠×人半乳糖血症体细胞杂种中的表达
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3
Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.人类半乳糖-1-磷酸尿苷酰转移酶基因（GALT1）在人-中国仓鼠体细胞杂种中定位于9号染色体。
Cytogenet Cell Genet. 1978;22(1-6):207-11. doi: 10.1159/000130937.
4
Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.人类1-磷酸半乳糖尿苷酰转移酶基因的区域染色体定位。
Hum Genet. 1977 Jul 26;37(3):279-84. doi: 10.1007/BF00393609.
5
Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9.将1-磷酸半乳糖尿苷酰转移酶（酶编号2.7.7.12）的基因定位于人类第9号染色体的确认。
Cytogenet Cell Genet. 1979;24(1):37-41. doi: 10.1159/000131354.
6
Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.人类9号染色体上基因位点的区域定位：对含人类易位的体细胞杂种的研究
Am J Hum Genet. 1979 Sep;31(5):586-600.
7
Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
Proc Natl Acad Sci U S A. 1974 Feb;71(2):404-7. doi: 10.1073/pnas.71.2.404.
8
Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.将半乳糖-1-磷酸尿苷酰转移酶（GALT）定位于9号染色体，并在9号染色体上对GALT、腺苷酸激酶1（AK1）、腺苷酸激酶3（AK3）和acon进行区域定位。
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9
Evidence for synteny between the human loci for galactose-1-phosphate uridyl transferase and aconitase in man-Chinese hamster somatic cell hybrids.人类1-磷酸半乳糖尿苷酰转移酶基因座与乌头酸酶基因座在人-中国仓鼠体细胞杂种中的同线性证据。
Cytogenet Cell Genet. 1975;14(3-6):453-4. doi: 10.1159/000130405.
10
Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.两个无亲缘关系的9p-患者中GALT的表达。支持将GALT基因座定位于9p21带的证据。
Hum Genet. 1981;59(2):112-4. doi: 10.1007/BF00293057.

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2
Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.与失活X染色体相连的人类常染色体位点失活的遗传学证据。
Am J Hum Genet. 1982 Sep;34(5):811-7.
3
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man.

本文引用的文献

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Genetically determined variation of adenylate kinase in man.人类中腺苷酸激酶的基因决定变异。
Nature. 1966 Jan 15;209(5020):261-3. doi: 10.1038/209261a0.
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Differential binding of alkylating fluorochromes in human chromosomes.烷化荧光染料在人类染色体中的差异结合
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Electrophoresis of phosphoglycerate kinase.磷酸甘油酸激酶的电泳
人类X染色体失活状态下X连锁基因在人-鼠杂交细胞中的表达：关于人类类固醇硫酸酯酶基因座未失活的进一步证据
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Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20.20号染色体上S-腺苷同型半胱氨酸水解酶（cen----q131）和腺苷脱氨酶（q131----qter）人类基因的区域定位。
Hum Genet. 1984;66(4):292-5. doi: 10.1007/BF00287630.
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Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.通过等电聚焦对1-磷酸半乳糖尿苷酰转移酶（EC 2.7.7.12）的正常和异常变体进行表征。
Hum Genet. 1983;63(3):274-9. doi: 10.1007/BF00284663.
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Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.两个无亲缘关系的9p-患者中GALT的表达。支持将GALT基因座定位于9p21带的证据。
Hum Genet. 1981;59(2):112-4. doi: 10.1007/BF00293057.
7
Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16.人类α-珠蛋白基因和磷酸乙醇酸磷酸酶基因在16号染色体短臂上的区域定位。
Proc Natl Acad Sci U S A. 1981 Nov;78(11):7015-8. doi: 10.1073/pnas.78.11.7015.
8
Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.采用改良的GALT检测技术对9号染色体三体和9号染色体四体中的GALT进行基因剂量效应研究。
Hum Genet. 1981;57(2):142-4. doi: 10.1007/BF00282010.
9
Where is the gene for GALT?半乳糖-1-磷酸尿苷酰转移酶基因位于哪里？
Hum Genet. 1980;54(1):129-30. doi: 10.1007/BF00279064.
10
Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.人类1-磷酸半乳糖尿苷酰转移酶基因座与9号染色体长臂之间可能存在的连锁关系。
Am J Hum Genet. 1980 Mar;32(2):188-93.
Biochem Genet. 1969 Apr;3(2):189-95. doi: 10.1007/BF00520353.
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Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
Proc Natl Acad Sci U S A. 1974 Feb;71(2):404-7. doi: 10.1073/pnas.71.2.404.
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Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase.人葡萄糖-6-磷酸脱氢酶的醋酸纤维素电泳
J Lab Clin Med. 1969 Mar;73(3):531-4.
6
Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.将人类己糖-1-磷酸尿苷酰转移酶基因定位于3号染色体。
Proc Natl Acad Sci U S A. 1974 Sep;71(9):3483-6. doi: 10.1073/pnas.71.9.3483.
7
Evidence for synteny between the human loci for galactose-1-phosphate uridyl transferase and aconitase in man-Chinese hamster somatic cell hybrids.人类-中国仓鼠体细胞杂种中半乳糖-1-磷酸尿苷酰转移酶和乌头酸酶的人类基因座之间存在同线性的证据。
Birth Defects Orig Artic Ser. 1975;11(3):283-4.
8
Aconitase polymorphism in man.人类中的乌头酸酶多态性。
Ann Hum Genet. 1975 Oct;39(2):193-202. doi: 10.1111/j.1469-1809.1975.tb00122.x.
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The status of the gene map of the human chromosomes.人类染色体基因图谱的状况。
Science. 1977 Apr 22;196(4288):390-405. doi: 10.1126/science.850784.
10
Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man.人染色体9上AK1、AK3和ACONs基因座定位的证据。
Ann Hum Genet. 1976 May;39(4):413-22. doi: 10.1111/j.1469-1809.1976.tb00145.x.