Insulin-like growth factor 1 receptor (IGF1R) is essential for the signalling of growth. In this study, we performed single nucleotide polymorphism (SNP) detection in the Japanese quail IGF1R coding region and an association study between SNPs and body weight in two lines (SS and LL) selected for large and small body weight. Of 21 SNPs obtained, a SNP at position AB292766:c.2293G>A led to the replacement of a valine with an isoleucine (V765I). The two lines were fixed for alternate alleles, with allele encoding valine fixed in the LL line. A significant effect of the SNP genotype was found on 10-week body weight (P < 0.01) and on 4- to 10-week and 6- to 10-week average daily gain (P < 0.05) in the F(2) family obtained from lines LL and SS. In six populations maintained in Japan or France, the frequency of allele encoding valine was higher than the allele encoding isoleucine.
In this study, we attempted to use amplified fragment length polymorphism (AFLP) in combination with selective genotyping to detect loci that affected shank length and body weight at 10 weeks of age in Japanese quail (Coturnix japonica). A total of 88 primer pairs were used in AFLP analyses of 10 and 13 males with the longest and shortest shank lengths, respectively, from an F 2 intercross population derived from lines differentiated by large and small body size (LL and SS, respectively). Ten AFLP bands differed strikingly in frequency between the two groups (P<0.005). Genotyping of the 10 bands in 10 females with the longest shank lengths and 10 with the shortest revealed that one band differed significantly in frequency between the two groups for both males and females (P< 0.05). This fragment shared 86.4% identity with a 361-bp sequence of chicken chromosome 1 located from position 51,672,791 to 51,673,152, as determined by chicken BLAT search. Polymerase chain reaction and sequence analysis revealed that a 190-bp insertion/deletion was the causal polymorphism. Genotypes of this indel marker were associated significantly with shank length and body weight in the F 2 intercross population (P<0.005). The insertion allele had a positive effect on both traits. To confirm the association of this marker with the two traits, we conducted association analysis in a population derived from heterozygous quails of another line. In this analysis, the indel genotypes showed no significant association with shank length or male body weight (P>0.05), but did show a significant association with female body weight (P<0.05).
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