Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

被引：112

作者：

Agamy, Orly ^{[1
]}

Ben Zeev, Bruria ^{[2
,3
]}

Lev, Dorit ^{[4
,5
]}

Marcus, Barak ^{[1
]}

Fine, Dina ^{[1
]}

Su, Dan ^{[6
,7
]}

Narkis, Ginat ^{[1
,8
]}

Ofir, Rivka ^{[1
]}

Hoffmann, Chen ^{[2
,3
]}

Leshinsky-Silver, Esther ^{[4
,5
]}

Flusser, Hagit ^{[1
]}

Sivan, Sara ^{[1
]}

Soll, Dieter ^{[6
,7
]}

Lerman-Sagie, Tally ^{[4
,5
]}

Birk, Ohad S. ^{[1
,8
]}

机构：

[1] Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol Negev, IL-84105 Beer Sheva, Israel

[2] Chaim Sheba Med Ctr, Pediat Neurol Unit, Ramat Gan, Israel

[3] Chaim Sheba Med Ctr, Dept Diagnost Imaging, Ramat Gan, Israel

[4] Wolfson Med Ctr, Inst Med Genet, Holon, Israel

[5] Wolfson Med Ctr, Pediat Neurol Unit, Holon, Israel

[6] Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT USA

[7] Yale Univ, Dept Chem, New Haven, CT USA

[8] Soroka Univ, Med Ctr, Genet Inst, Beer Sheva, Israel

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2010年 / 87卷 / 04期

关键词：

APOLIPOPROTEIN-E RECEPTOR-2; SELENOPROTEIN-P; NEUROLOGICAL DYSFUNCTION; MOUSE-BRAIN; SELENIUM; DELETION; GENE; MICE; NEURODEGENERATION; EXPRESSION;

D O I：

10.1016/j.ajhg.2010.09.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The essential micronutrient selenium is found in proteins as selenocysteine (Sec), the only genetically encoded amino acid whose biosynthesis occurs on its cognate tRNA in humans. In the final step of selenocysteine formation, the essential enzyme SepSecS catalyzes the conversion of Sep-tRNA to Sec-tRNA We demonstrate that SepSecS mutations cause autosomal-recessive progressive cerebellocerebral atrophy (PCCA) in Jews of Iraqi and Moroccan ancestry Both founder mutations, common in these two populations, disrupt the sole route to the biosynthesis of the 21st amino acid, Sec, and thus to the generation of selenoproteins in humans

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页码：538 / 544

页数：7

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