Radical S-Adenosylmethionine Enzymes in Human Health and Disease

被引：174

作者：

Landgraf, Bradley J. ^{[1
]}

McCarthy, Erin L. ^{[2
]}

Booker, Squire J. ^{[1
,2
,3
]}

机构：

[1] Penn State Univ, Dept Chem, University Pk, PA 16802 USA

[2] Penn State Univ, Dept Biochem & Mol Biol, University Pk, PA 16802 USA

[3] Penn State Univ, Howard Hughes Med Inst, University Pk, PA 16802 USA

来源：

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 85 | 2016年 / 85卷

关键词：

iron-sulfur cluster; molybdenum cofactor; lipoic acid; tRNA modifications; Elongator; S-adenosylmethionine; radicals; viperin; MOLYBDENUM COFACTOR DEFICIENCY; ADENOSYL-L-METHIONINE; HEPATITIS-C VIRUS; ANTIVIRAL PROTEIN VIPERIN; GENOME-WIDE ASSOCIATION; IRON-SULFUR PROTEIN; AMYOTROPHIC-LATERAL-SCLEROSIS; MITOCHONDRIAL TRANSFER-RNAS; PHENYLALANINE TRANSFER-RNA; LIPOIC ACID BIOSYNTHESIS;

D O I：

10.1146/annurev-biochem-060713-035504

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Radical S-adenosylmethionine (SAM) enzymes catalyze an astonishing array of complex and chemically challenging reactions across all domains of life. Of approximately 114,000 of these enzymes, 8 are known to be present in humans: MOCS1, molybdenum cofactor biosynthesis; LIAS, lipoic acid biosynthesis; CDK5RAP1, 2-methylthio-N-6-isopentenyladenosine biosynthesis; CDKAL1, methylthio-N-6-threonylcarbamoyladenosine biosynthesis; TYW1, wybutosine biosynthesis; ELP3, 5-methoxycarbonylmethyl uridine; and RSAD1 and viperin, both of unknown function. Aberrations in the genes encoding these proteins result in a variety of diseases. In this review, we summarize the biochemical characterization of these 8 radical S-adenosylmethionine enzymes and, in the context of human health, describe the deleterious effects that result from such genetic mutations.

引用

页码：485 / 514

页数：30

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