RESUMEN
The bifoliate, or bicuspid, aortic valve (BAV) is the most frequent congenital cardiac anomaly in man. It is a heritable defect, but its mode of inheritance remains unclear. Previous studies in Syrian hamsters showed that BAVs with fusion of the right and left coronary leaflets are expressions of a trait, the variation of which takes the form of a phenotypic continuum. It ranges from a trifoliate valve with no fusion of the coronary leaflets to a bifoliate root devoid of any raphe. The intermediate stages are represented by trifoliate valves with fusion of the coronary aortic leaflets, and bifoliate valves with raphes. The aim of this study was to elucidate whether the distinct morphological variants rely on a common genotype, or on different genotypes. We examined the aortic valves from 1 849 Syrian hamsters belonging to a family subjected to systematic inbreeding by full-sib mating. The incidence of the different trifoliate aortic valve (TAV) and bifoliate aortic valve (BAV) morphological variants widely varied in the successive inbred generations. TAVs with extensive fusion of the leaflets, and BAVs, accounted for five-sixths of the patterns found in Syrian hamsters considered to be genetically alike or virtually isogenic, with the probability of homozygosity being 0.999 or higher. The remaining one-sixth hamsters had aortic valves with a tricuspid design, but in most cases the right and left coronary leaflets were slightly fused. Results of crosses between genetically alike hamsters, with the probability of homozygosity being 0.989 or higher, revealed no significant association between the valvar phenotypes in the parents and their offspring. Our findings are consistent with the notion that the BAVs of the Syrian hamster are expressions of a quantitative trait subject to polygenic inheritance. They suggest that the genotype of the virtually isogenic animals produced by systematic inbreeding greatly predisposes to the development of anomalous valves, be they bifoliate, or trifoliate with extensive fusion of the leaflets. We infer that the same underlying genotype may account for the whole range of valvar morphological variants, suggesting that factors other than genetic ones are acting during embryonic life, creating the so-called intangible variation or developmental noise, and playing an important role in the definitive anatomic configuration of the valve. The clinical implication from our study is that congenital aortic valves with a trifoliate design, but with fusion of coronary aortic leaflets, may harbour the same inherent risks as those already recognised for BAVs with fusion of right and left coronary leaflets.
Asunto(s)
Animales Congénicos/genética , Válvula Aórtica/anomalías , Mesocricetus/genética , Animales , Animales Congénicos/anatomía & histología , Cricetinae , Femenino , Genotipo , Masculino , Mesocricetus/anatomía & histología , FenotipoRESUMEN
A simple yet useful criterion based on external markings and/or number of dorsal spines is currently used to differentiate two congeneric archer fish species Toxotes chatareus and Toxotes jaculatrix. Here we investigate other morphometric and meristic characters that can also be used to differentiate these two species. Principal component and/or discriminant functions revealed that meristic characters were highly correlated with pectoral fin ray count, number of lateral line scales, as well as number of anal fin rays. The results indicate that T. chatareus can be distinguished from T. jaculatrix by having a greater number of lateral line scales, a lower number of pectoral fin rays, and a higher number of anal fin rays. In contrast, morphometric discriminant analyses gave relatively low distinction: 76.1% of fish were ascribed to the correct species cluster. The observed morphometric differences came from the dorsal and anal spines lengths, with T. chatareus having shorter dorsal and longer anal spines than T. jaculatrix. Overall, meristic traits were more useful than morphometrics in differentiating the two species; nevertheless, meristics and morphometrics together provide information about the morphological differentiation between these two closely related archer fishes.