TY - JOUR
T1 - Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy
AU - Agamy, Orly
AU - Ben Zeev, Bruria
AU - Lev, Dorit
AU - Marcus, Barak
AU - Fine, Dina
AU - Su, Dan
AU - Narkis, Ginat
AU - Ofir, Rivka
AU - Hoffmann, Chen
AU - Leshinsky-Silver, Esther
AU - Flusser, Hagit
AU - Sivan, Sara
AU - Söll, Dieter
AU - Lerman-Sagie, Tally
AU - Birk, Ohad S.
PY - 2010/10/8
Y1 - 2010/10/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77957731889&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2010.09.007
DO - 10.1016/j.ajhg.2010.09.007
M3 - Article
C2 - 20920667
AN - SCOPUS:77957731889
SN - 0002-9297
VL - 87
SP - 538
EP - 544
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -