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.
Polymorphisms of the Gene Encoding Kit Ligand are Associated With Bronchopulmonary Dysplasia
PEDIATRIC PULMONOLOGY
Authors: Huusko, Johanna M.; Mahlman, Mari; Karjalainen, Minna K.; Kaukola, Tuula; Haataja, Ritva; Marttila, Riitta; Toldi, Gergely; Szabo, Miklos; Kingsmore, Stephen F.; Ramet, Mika; Lavoie, Pascal M.; Hallman, Mikko
Abstract
Bronchopulmonary dysplasia (BPD) is a chronic inflammatory lung disease that affects infants born preterm. Family studies indicate that BPD has a significant genetic component. Rationale: We assessed the gene encoding Kit ligand (KITLG) as a candidate for genetic predisposition to moderate-to-severe BPD (controls were infants with no or mild BPD). Study design: Eight KITLG-tagging single nucleotide polymorphisms (SNPs) were analyzed in cohorts of very preterm infants originating from northern Finland (56 cases and 197 controls), southern Finland (n=59+52), and Canada (n=58+68). Additional replication populations included infants born in Finland (n=41+241) and Hungary (n=29+40). All infants were of European origin. Results were controlled for risk factors of BPD. Kit ligand concentration in umbilical cord blood, collected from very preterm infants (n=120), was studied. Results: Six SNPs of KITLG and a haplotype including all eight genotyped SNPs were associated with moderate-to-severe BPD in the northern Finnish population. When all the populations were combined, SNP rs11104948 was significantly associated with BPD. Kit ligand concentration in umbilical cord blood of infants born very preterm was an independent risk factor of BPD. Conclusions: We show that KITLG polymorphisms are associated with susceptibility to moderate-to-severe BPD. In addition, higher Kit ligand concentrations were observed in infants that subsequently developed BPD. These results support the possibility that KITLG gene is involved in predisposition to BPD. Pediatr Pulmonol. 2015; 50:260-270. (c) 2014 Wiley Periodicals, Inc.