title: Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.
abstract: Spinocerebellar Ataxia 8 (SCA8) is a neurodegenerative disorder caused by expansion of a trinucleotide repeat. We undertake a comparative genetic analysis among human populations and primate species in the normal variation range, where forces that shaped present diversity can be recognised. We determinate number of repeats of the short tandem repeat through allele length sizing and sequencing methods. Human allele distributions are very similar among populations, ruling out ethnicity as a genetic risk for allele expansion. Primate comparison shows human-specific features, with longer human alleles due to a novel variable trinucleotide repeat, not present in non-human primates, which increased the disease-causing expansion likelihood. SCA8 seems to be a human specific disease.
authors.affiliation: Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Dr Aiguader 80, 08003, Barcelona, Spain.
authors.forename: A M
authors.initials: AM
authors.lastname: Andrés
authors.forename: M
authors.initials: M
authors.lastname: Soldevila
authors.forename: N
authors.initials: N
authors.lastname: Saitou
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: F
authors.initials: F
authors.lastname: Calafell
authors.forename: J
authors.initials: J
authors.lastname: Bertranpetit
mesh_terms: D000409:Alanine / Q000235:genetics; D000483:Alleles; D000818:Animals; D003545:Cysteine / Q000235:genetics; D014644:Genetic Variation; D005998:Glycine / Q000235:genetics; D006071:Gorilla gorilla; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D002679:Pan troglodytes; D016133:Polymerase Chain Reaction; D011148:Pongo pygmaeus; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012307:Risk Factors; D013045:Species Specificity; D013132:Spinocerebellar Degenerations / Q000208:ethnology* / Q000235:genetics*; D013912:Threonine / Q000235:genetics; D019680:Trinucleotide Repeat Expansion
chemical_list: C415906:ATXN8OS gene product, human; D009419:Nerve Tissue Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D013912:Threonine; D003545:Cysteine; D000409:Alanine; D005998:Glycine