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将人类己糖-1-磷酸尿苷酰转移酶基因定位于3号染色体。

Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

作者信息

Tedesco T A, Diamond R, Orkwiszewski K G, Boedecker H J, Croce C M

出版信息

Proc Natl Acad Sci U S A. 1974 Sep;71(9):3483-6. doi: 10.1073/pnas.71.9.3483.

DOI:10.1073/pnas.71.9.3483
PMID:4139713
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC433798/
Abstract

Mouse-human hybrid clones were tested for the presence of human hexose-1-phosphate uridylyl-transferase (EC 2.7.7.12;UDPglucose:alpha-D-galactose-1-phosphate uridylyltransferase). Two criteria, starch gel electrophoresis and double-immunodiffusion against a human transferase-specific antibody, were used to identify human enzyme in the hybrid clones. Seventeen of 33 hybrid clones analyzed were found to contain human transferase by both criteria. Karyological analysis of the hybrid clones showed concordant segregation of human transferase with human chromosome 3. Human galactokinase was asyntenic with human transferase. We thus assign this gene to human chromosome 3.

摘要

对小鼠 - 人杂交克隆进行检测，以确定是否存在人己糖 - 1 - 磷酸尿苷酰转移酶（EC 2.7.7.12；UDP葡萄糖：α - D - 半乳糖 - 1 - 磷酸尿苷酰转移酶）。使用淀粉凝胶电泳和针对人转移酶特异性抗体的双向免疫扩散这两个标准，来鉴定杂交克隆中的人酶。通过这两个标准分析的33个杂交克隆中，有17个被发现含有人转移酶。对杂交克隆的染色体分析表明，人转移酶与人3号染色体呈一致分离。人半乳糖激酶与人转移酶不同源。因此，我们将该基因定位到人3号染色体上。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b16c/433798/551b2c6a67a3/pnas00072-0170-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b16c/433798/8c63985924a3/pnas00072-0170-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b16c/433798/551b2c6a67a3/pnas00072-0170-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b16c/433798/8c63985924a3/pnas00072-0170-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b16c/433798/551b2c6a67a3/pnas00072-0170-b.jpg

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引用本文的文献

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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.
2
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.
3
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。

本文引用的文献

1
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.泰-萨克斯病：普遍缺乏β-D-N-乙酰己糖胺酶成分。
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Genetics of somatic mammalian cells: genetic, immunologic, and biochemical analysis with Chinese hamster cell hybrids containing selected human chromosomes.体细胞哺乳动物细胞遗传学：对含有特定人类染色体的中国仓鼠细胞杂种进行遗传、免疫和生化分析。
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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.
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Expression of alpha-D-mannosidase in man-hamster somatic cell hybrids.α-D-甘露糖苷酶在人-仓鼠体细胞杂种中的表达。
Biochem Genet. 1977 Jun;15(5-6):455-76. doi: 10.1007/BF00520191.
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An immunochemical method for the detection of the expression of human gene loci in human-rodent somatic cell hybrids with special reference to the GPI locus.
Biochem Genet. 1976 Aug;14(7-8):661-70. doi: 10.1007/BF00485844.
9
Aconitase (E.C. 4.2.1.3) mitochondrial locus mapped to human chromosome 22: studies with Chinese hamster--human somatic cell hybrids.乌头酸酶（E.C. 4.2.1.3）线粒体基因座定位于人类22号染色体：中国仓鼠-人类体细胞杂种研究
Biochem Genet. 1978 Aug;16(7-8):751-6. doi: 10.1007/BF00484732.
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A case of trisomy 3q21 leads to qter syndrome.
Hum Genet. 1979 Jan 25;46(2):141-7. doi: 10.1007/BF00291914.
人类遗传标记在人-中国仓鼠体细胞杂种中的丢失
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4
Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes.含有部分人类染色体互补物和功能性人类基因的人-鼠杂交细胞系。
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Purification and properties of galactokinase from human red blood cells.人红细胞半乳糖激酶的纯化及性质
J Biol Chem. 1971 Nov;246(21):6507-10.
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Linkage analysis in man by somatic cell genetics.通过体细胞遗传学进行人类连锁分析。
Nature. 1973 Mar 16;242(5394):165-9. doi: 10.1038/242165a0.
7
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J Biol Chem. 1972 Oct 25;247(20):6631-6.
8
Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.
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Unidirectional loss of human chromosomes in rat-human hybrids.大鼠 - 人类杂交细胞系中人类染色体的单向丢失
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10
Preferential retention of the human chromosome C-7 in human-(thymidine kinase deficient) mouse hybrid cells.人类（胸苷激酶缺陷型）小鼠杂交细胞中人类7号染色体的优先保留。
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