Nicolet Groot

TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.

TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.

TL;DR: The discovery of a new gene encoding a novel member of a family of protein kinases that specifically phosphorylate the activated forms of G protein-coupled receptors is reported.

TL;DR: The technique of exon amplification to the isolation of genes from the chromosome 4p16.3 Huntington's disease (HD) candidate region identified cDNA clones corresponding to the α–subunit of adducin, a calmodulin–binding protein that is thought to promote assembly of spectrin–actin complexes in the formation of the membrane cytoskeleton.

TL;DR: Using exon amplification to identify the ADD1 gene in cosmid Y24 from the Huntington's disease (HD) region of 4p16.3 should open a route to isolating additional mammalian members of this growing superfamily of transporter proteins.