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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

Hum Mol Genet. 2021-04; 
Roy Jung, Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob Loupe, Ryan L Collins, Diane Lucente, Jayla Ruliera, Tammy Gillis, Jayalakshmi S Mysore, Lance Rodan, Jonathan Picker, Jong-Min Lee, David Howland, Ramee Lee, Seung Kwak, Marcy E MacDonald, James F Gusella, Ihn Sik Seong
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Mutagenesis Services The huntingtin Leu2719 cDNA variant was generated by site-directed mutagenesis (GenScript Piscataway, NJ, USA) Get A Quote

摘要

Huntington's disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of huntingtin's normal activities to the gain-of-function mechanism and what the effects of huntingtin-lowering might be are unclear. Here, we have re-investigated a rare family segregating two presumed HTT loss-of-function (LoF) variants associated with the developmental disorder, Lopes-Maciel-Rodan syndrome (LOMARS), using whole-genome sequencing of DNA from cell lines, in conjunction with analysis of mRNA and protein expression. Our findings correct the muddled annotation... More

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