In PLOS Genetics, researchers from the University of California, Davis, and elsewhere describe potential ties between a human condition called Robinow syndrome and WNT pathway-related vertebral abnormalities in bulldogs and other 'screw tail' dog breeds. Using whole-genome sequence data for 100 dogs from 21 breeds, the team narrowed in on a frameshift mutation in the DVL2 gene that coincides with the kinked, screw tail trait and is fixed in bulldog and French Bulldog breeds. The authors note that the variant appears to be analogous to frameshift mutations in the DVL1 and DVL3 genes in humans, which have been implicated in the congenital malformation condition Robinow syndrome.
A University of Miami-led team explores late-onset Alzheimer disease-related ApoE genotypes in African-American and Puerto Rican populations for a paper appearing in PLOS Genetics. The researchers compared array-based genotype profiles for almost 1,800 African-American individuals with late-onset Alzheimer's and 3,730 unaffected, elderly African-American controls, as well as 220 Alzheimer's-affected Puerto Ricans and 169 Alzheimer's-free controls with similar ancestry. The authors note that "ancestry local to the ApoE region showed an interaction with the ApoE [epsilon-4] allele in both populations," perhaps contributing to the lower Alzheimer's risk associated with ApoE epsilon-4 risk alleles in individuals with African ancestry relative to Europeans.
University of Toronto researchers report on antimicrobial resistance-related recombinations in Burkholderia multivorans, a contributor to dangerous lung infections in individuals with cystic fibrosis. The team did whole-genome sequencing on 111 B. multivorans isolates from sputum samples collected from a cystic fibrosis patient during three phases of infection, including samples taken before and after a lung transplant. After identifying, drug resistant lineages that arose over time, the authors used a genome-wide association analysis to track down variants and recombination events that appear to contribute to resistance to beta-lactam, aminoglycoside, and quinolone antibiotics.