Huntingtin (htt) is the 800 million-year-old 3,144 amino acid protein product of the Huntington’s disease (HD) gene, which carries a tri-nucleotide CAG repeat then translated into polyglutamine (polyQ) at an evolutionarily conserved NH2-terminal position in exon 1. The CAG triplet is polymorphic in the normal population, ranging from 9 to 32 repetitions. In humans, an expansion of the repeats to more than 35 causes HD, a fatal, genetically dominant neurodegenerative disorder (MacDonald et al., Cell 72:971–983, 1993).
HTT evolution and brain development / C. Zuccato, E. Cattaneo (Research and Perspectives in Neurosciences). - In: Programmed Cells from Basic Neuroscience to Therapy / [a cura di] F.H. Gage, Y. Christen. - [s.l] : Springer, 2013. - ISBN 9783642366475. - pp. 41-55 [10.1007/978-3-642-36648-2_5]
HTT evolution and brain development
C. ZuccatoPrimo
;E. CattaneoUltimo
2013
Abstract
Huntingtin (htt) is the 800 million-year-old 3,144 amino acid protein product of the Huntington’s disease (HD) gene, which carries a tri-nucleotide CAG repeat then translated into polyglutamine (polyQ) at an evolutionarily conserved NH2-terminal position in exon 1. The CAG triplet is polymorphic in the normal population, ranging from 9 to 32 repetitions. In humans, an expansion of the repeats to more than 35 causes HD, a fatal, genetically dominant neurodegenerative disorder (MacDonald et al., Cell 72:971–983, 1993).
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