Nature Genetics - Current issue : July 2009 - Vol 41 No 7
Latest highlights
Advance online publication
Enhancer function at 8q24
Article by Sari TuupanenTwo groups independently report that the region on 8q24 associated with colorectal cancer risk functions as an enhancer. Lauri Aaltonen and colleagues show that the risk allele at this locus binds with higher affinity to the Wnt-regulated transcription factor TCF4 (also called TCF7L2), conferring enhanced responsiveness to Wnt signaling. Matthew Freedman and colleagues show that the region undergoes long-range interactions with MYC and alleles at the risk-associated SNP bind differentially to TCF7L2.
Advance online publication
CLDN14 variants associated with kidney stones
Letter by Gudmar ThorleifssonGudmar Thorleifsson and colleagues report a genome-wide association study for nephrolithiasis. They report common variants in CLDN14 associated with increased risk of kidney stone disease. The same variants also associated with reduced bone mineral density at the hip and spine. CLDN14 encodes claudin 14, which is expressed in the kidney and plays a role in paracellular permeability at epithelial tight junctions.
Current issue
Establishment of kidney tubule diameter
Article by Courtney KarnerThomas Carroll and colleagues show that attenuation of Wnt9b signaling during kidney morphogenesis affects planar cell polarity and causes an increase in tubule diameter. Their analyses suggest that tubule diameter is established by convergent extension movements and subsequently maintained by polarized cell divisions.
Current issue
Establishing silence
Article by Erin OsborneJasper Rine and colleagues examine the silencing of the HML locus in synchronous S. cerevisiae cells at single-cell resolution. They demonstrate that the establishment of silencing under native conditions occurs rapidly, within two cell cycles.
Current issue
Genetics of encephalopathy
Letter by Gillian RiceTwo independent groups identify genetic mutations that cause encephalopathy phenotypes. Yanick Crow and colleagues identify mutations in an interferon-inducible nuclear gene encoding SAMHD1 in individuals with Aicardi-Goutières syndrome, and Jutta Gartner and colleagues identify mutant alleles in the RNASET2 gene that are responsible for the CMV infection–like neurological disorder cystic leukoencephalopathy without megalencephaly (CLM).
Current issue
Variants associated with multiple sclerosis
Article by Philip De JagerTwo independent groups report new loci associated with multiple sclerosis. Philip De Jager and colleagues report results of a large genome-wide association study that uncovers three new susceptibility loci for MS, including common and rare variants at TNFRSF1A and common variants at IRF8 and CD6. Justin Rubio and colleagues report results of a genome-wide association study that confirms several published risk loci for MS and identifies two new risk loci on chromosomes 12 and 20.

