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人类三功能酶(亚甲基四氢叶酸脱氢酶-亚甲四氢叶酸环化水解酶-甲酰四氢叶酸合成酶)基因的染色体定位

Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.

作者信息

Rozen R, Barton D, Du J, Hum D W, MacKenzie R E, Francke U

机构信息

Department of Pediatrics, McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada.

出版信息

Am J Hum Genet. 1989 Jun;44(6):781-6.

PMID:2786332
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715669/
Abstract

A trifunctional protein in man, 5,10-methylenetetrahydrofolate dehydrogenase-5,10-methenyltetrahydrofolate cyclohydrolase-10-formyltetrahydrofolate synthetase, catalyzes three consecutive steps in the interconversion of tetrahydrofolate derivatives; these derivatives supply one-carbon units for intermediary metabolism. Somatic cell hybridization and in situ hybridization were used to localize the functional gene coding for this protein--to human chromosome 14q24, near the c-fos and TGF-beta 3 loci. A second hybridizing sequence, possibly a pseudogene, was identified near the centromere of the X chromosome, at Xp11.

摘要

人类中的一种三功能蛋白,即5,10-亚甲基四氢叶酸脱氢酶-5,10-亚甲基四氢叶酸环水解酶-10-甲酰四氢叶酸合成酶,催化四氢叶酸衍生物相互转化过程中的三个连续步骤;这些衍生物为中间代谢提供一碳单位。利用体细胞杂交和原位杂交技术,将编码该蛋白的功能基因定位到人类染色体14q24,靠近c-fos和TGF-β3基因座。在X染色体着丝粒附近的Xp11处鉴定出了第二个杂交序列,可能是一个假基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de50/1715669/2f1d9efe1379/ajhg00116-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de50/1715669/2f1d9efe1379/ajhg00116-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de50/1715669/2f1d9efe1379/ajhg00116-0006-a.jpg

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Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q.免疫球蛋白重链基因和α1-抗胰蛋白酶基因定位于14号染色体长臂的特定区域。
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