Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken

• Published in: Mobile DNA 2019-08, Vol.10 (1), p.38-38, Article 38
• Main Authors: Li, Jingyi, Davis, Brian W, Jern, Patric, Dorshorst, Ben J, Siegel, Paul B, Andersson, Leif
• Format: Article
• Language: English
• Subjects: Androgens; Aromatase; Binding sites; Chicken; Chicken breeds; Chromosomes; Cytochrome P-450; Dimorphism (Biology); DNA sequencing; Endogenous retrovirus; ERV; Estrogens; Females; Gene mutation; Genetics and Breeding; Genetik och förädling; Genomes; Genomics; Genotype & phenotype; Henny feather; Leukemia; LTR; Males; Phenols (Class of compounds); Poultry; Promoters (Genetics); Retrovirus infections; Sex hormones; Skin; Studies; Women
• ISSN: 1759-8753; 1759-8753
• DOI: 10.1186/s13100-019-0181-4

Henny feathering in chickens is determined by a dominant mutation that transforms male-specific plumage to female-like plumage. Previous studies indicated that this phenotype is caused by ectopic expression in skin of encoding aromatase that converts androgens to estrogen and thereby inhibits the development of male-specific plumage. A long terminal repeat (LTR) from an uncharacterized endogenous retrovirus (ERV) insertion was found in an isoform of the transcript from henny feathering chicken. However, the complete sequence and the genomic position of the insertion were not determined. We used publicly available whole genome sequence data to determine the flanking sequences of the ERV, and then PCR amplified the entire insertion and sequenced it using Nanopore long reads and Sanger sequencing. The 7524 bp insertion contains an intact endogenous retrovirus that was not found in chickens representing 31 different breeds not showing henny feathering or in samples of the ancestral red junglefowl. The sequence shows over 99% sequence identity to the avian leukosis virus ev-1 and ev-21 strains, suggesting a recent integration. The ERV 3'LTR, containing a powerful transcriptional enhancer and core promoter with TATA box together with binding sites for EFIII and Ig/EBP inside the 5' untranslated region, was detected partially in an aromatase transcript, which present a plausible explanation for ectopic expression of aromatase in non-ovarian tissues underlying the henny feathering phenotype. We demonstrate that the henny feathering allele harbors an insertion of an intact avian leukosis virus at the 5'end of . The presence of this ERV showed complete concordance with the henny feathering phenotype both within a pedigree segregating for this phenotype and across breeds.