Computational Biology Center, IBM Thomas J. Watson Research Center, Yorktown Heights, New York 10598, United States.
School of Chemical Sciences, Meritorious Autonomous University of Puebla (BUAP), University City, Puebla 72570, Mexico.
J Phys Chem Lett. 2022 Jul 14;13(27):6331-6341. doi: 10.1021/acs.jpclett.2c01184. Epub 2022 Jul 7.
Huntington's disease is an inherited neurodegenerative disorder caused by the overduplication of CAG repeats in the Huntingtin gene. Recent findings revealed that among the orthologs, the expansion of CAG repeats (polyQ) in the Huntingtin gene occurs in tandem with the duplication of CCG repeats (polyP). However, the molecular mechanism of this possible co-evolution remains unknown. We examined the structures of Huntingtin exon 1 (HttEx1) from six species along with five designed mutants. We found that the polyP segments "chaperone" the rest of the HttEx1 by forming ad hoc polyP binding grooves. Such a process elongates the otherwise poorly solvated polyQ domain, while modulating its secondary structure propensity from β-strands to α-helices. This chaperoning effect is achieved mostly through transient hydrogen bond interactions between polyP and the rest of HttEx1, resulting in a striking golden ratio of ∼2:1 between the chain lengths of polyQ and polyP.
亨廷顿病是一种遗传性神经退行性疾病,由亨廷顿基因中的 CAG 重复过度复制引起。最近的研究结果表明,在同源物中,亨廷顿基因中的 CAG 重复(多聚 Q)的扩展与 CCG 重复(多聚 P)的复制串联发生。然而,这种可能的共同进化的分子机制尚不清楚。我们研究了来自六个物种的亨廷顿外显子 1(HttEx1)以及五个设计突变体的结构。我们发现,多聚 P 段通过形成特定的多聚 P 结合槽“伴侣”其余的 HttEx1。这样的过程延长了原本疏水性较差的多聚 Q 结构域,同时调节其二级结构倾向从 β-折叠到 α-螺旋。这种伴侣效应主要通过多聚 P 与 HttEx1 其余部分之间的瞬时氢键相互作用来实现,导致多聚 Q 和多聚 P 的链长之间存在惊人的黄金比例约为 2:1。