A genome-wide association study of testicular germ cell tumor
NATURE GENETICS
Authors: Rapley, Elizabeth A.; Turnbull, Clare; Al Olama, Ali Amin; Dermitzakis, Emmanouil T.; Linger, Rachel; Huddart, Robert A.; Renwick, Anthony; Hughes, Deborah; Hines, Sarah; Seal, Sheila; Morrison, Jonathan; Nsengimana, Jeremie; Deloukas, Panagiotis; Rahman, Nazneen; Bishop, D. Timothy; Easton, Douglas F.; Stratton, Michael R.
Abstract
We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. We found strong evidence for susceptibility loci on chromosome 5 (per allele OR = 1.37 (95% CI = 1.19-1.58), P = 3 x 10(-13)), chromosome 6 (OR = 1.50 (95% CI = 1.28-1.75), P = 10(-13)) and chromosome 12 (OR = 2.55 (95% CI = 2.05-3.19), P = 10(-31)). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.
Exclusion of candidate genes for coat colour phenotypes of the American mink (Neovison vison)
ANIMAL GENETICS
Authors: Anistoroaei, R.; Markakis, M. N.; Vissenberg, K.; Christensen, K.
Abstract
In a previous project, we screened the American mink Bacterial Artificial Chromosome library, CHORI-231, for genes potentially involved in various coat colour phenotypes in the American mink. Subsequently, we 454 sequenced the inserts containing these genes and developed microsatellite markers for each of these genes. Here, we describe a lack of association between three different roan-type' phenotypes represented by Cross, Stardust and Cinnamon in American mink and six different genes that we considered to be potentially linked to these phenotypes. Thus, c-KIT (HUGO-approved symbol KIT), ATOH-1 (HUGO-approved symbol ATOH1) and POMC were excluded as potential candidates for these three phenotypes. In addition, MITF and SLC24A5 were excluded for Cross and Cinnamon, and KITL (HUGO-approved symbol KITLG) for Cross and Stardust. Although most of these genes have been implicated as the cause of similar phenotypes in other mammals, including horses, pigs, cows, dogs, cats, mice and humans, they do not appear to be responsible for comparable phenotypes found in American mink.