Copy reference, caption or embed code

Figure 2 - When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington's disease

Figure 2. HTT allele str uct ures influence HD A O O. T he upper part of the diagram represents a reference HD allele with 42 CAG repeats f ollo w ed b y the typically human 'CAA-CAG' tract, leading to a protein with 42Q + 2Q (both CAA and CAG translate to glutamine, Q). The CCG-CCA pair [representing the initial tract of the proline-rich domain (PRD)] f ollo wing the CAGs is also shown. Middle and bottom sections: GWAS-identified variants in the HTT allele nucleotide sequence that alter A O O; specifically, (middle) the LOI disease haplotype, an A-to-G synonymous mutation in the polyQ tract, leads to the same protein as the reference HD allele (42Q + 2Q), but accelerates disease onset. Con v ersely (bottom), in the DUP disease haplotype, the inclusion of an additional 'CAA-CAG' tract dela y s disease onset despite adding two extra Qs to the protein (42Q + 4Q).
HTT allele str uct ures influence HD A O O. T he upper part of the diagram represents a reference HD allele with 42 CAG repeats f ollo w ed b y the typically human 'CAA-CAG' tract, leading to a protein with 42Q + 2Q (both CAA and CAG translate to glutamine, Q). The CCG-CCA pair [representing the initial tract of the proline-rich domain (PRD)] f ollo wing the CAGs is also shown. Middle and bottom sections: GWAS-identified variants in the HTT allele nucleotide sequence that alter A O O; specifically, (middle) the LOI disease haplotype, an A-to-G synonymous mutation in the polyQ tract, leads to the same protein as the reference HD allele (42Q + 2Q), but accelerates disease onset. Con v ersely (bottom), in the DUP disease haplotype, the inclusion of an additional 'CAA-CAG' tract dela y s disease onset despite adding two extra Qs to the protein (42Q + 4Q).
Go to figure page
Reference
Caption
Embed code