Jim R. Hughes

TL;DR: Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3.

TL;DR: The results indicate that polycystin is an integral membrane protein involved in cell–cell/matrix interactions and not the duplicate loci of polycystic kidney disease 1.

TL;DR: Partial sequence analysis of the PKD1 transcript shows that it encodes a novel protein whose function is at present unknown, and a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in thePKD1 candidate region is identified.

TL;DR: Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected.

TL;DR: This work presents a high-throughput approach (Capture-C) to analyze cis interactions, interrogating hundreds of specific interactions at high resolution in a single experiment and shows how this approach will facilitate detailed, genome-wide analysis to elucidate the general principles by which cis-acting sequences control gene expression.