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人类谷氨酸脱氢酶(GLUD)基因家族的两个成员在染色体10q22.3-q23和Xq22-q23上的染色体定位。

Chromosomal mapping of two members of the human glutamate dehydrogenase (GLUD) gene family to chromosomes 10q22.3-q23 and Xq22-q23.

作者信息

Anagnou N P, Seuanez H, Modi W, O'Brien S J, Papamatheakis J, Moschonas N K

机构信息

Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology, Heraklion, Greece.

出版信息

Hum Hered. 1993 Nov-Dec;43(6):351-6. doi: 10.1159/000154158.

Abstract

Glutamate dehydrogenase (GLUD) is an important mitochondrial enzyme that participates in neuronal transmission by catalyzing the deamination of L-glutamate, which serves as a potent excitatory neurotransmitter. The direct involvement of GLUD in the pathogenesis of certain human neurodegenerative disorders has been suggested recently. To investigate its possible role in the induction and progression of these disorders, we have initiated studies focusing on the chromosomal organization of the several members of the GLUD family and their functional status. In the present study using a panel of human x rodent somatic cell hybrids and in situ hybridization to metaphase chromosomes, we documented that the members of the GLUD gene family are dispersed in the human genome. The functional GLUD1 gene was mapped to chromosome 10q22.3-q23, and an intronless processed gene (GLUDP1) to chromosome Xq22-q23, while the truncated intron-containing GLUD pseudogene GLUDP2 was also assigned on chromosome 10, but not closely linked to the GLUD1 gene. These results provide novel information concerning the chromosomal organization of the human GLUD gene family.

摘要

谷氨酸脱氢酶(GLUD)是一种重要的线粒体酶,它通过催化L-谷氨酸的脱氨作用参与神经元传递,L-谷氨酸是一种强效兴奋性神经递质。最近有人提出GLUD直接参与某些人类神经退行性疾病的发病机制。为了研究其在这些疾病的诱导和进展中可能发挥的作用,我们启动了相关研究,重点关注GLUD家族几个成员的染色体组织及其功能状态。在本研究中,我们使用一组人-啮齿动物体细胞杂种,并对中期染色体进行原位杂交,结果表明GLUD基因家族的成员分散在人类基因组中。功能性GLUD1基因定位于10号染色体q22.3-q23区域,一个无内含子的加工基因(GLUDP1)定位于X染色体q22-q23区域,而截短的含内含子的GLUD假基因GLUDP2也定位于10号染色体,但与GLUD1基因没有紧密连锁。这些结果提供了关于人类GLUD基因家族染色体组织的新信息。

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