Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken
Abstract Background 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 CYP19A1 encoding aromatase that converts androgens to estrogen...
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doaj-28b23c36c67b4a6ea58540b2cd2aaa9b2020-11-25T03:49:36ZengBMCMobile DNA1759-87532019-08-011011810.1186/s13100-019-0181-4Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chickenJingyi Li0Brian W. Davis1Patric Jern2Ben. J. Dorshorst3Paul B. Siegel4Leif Andersson5Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M UniversityDepartment of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M UniversityScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala UniversityDepartment of Animal and Poultry Sciences, Virginia Polytechnic Institute and State UniversityDepartment of Animal and Poultry Sciences, Virginia Polytechnic Institute and State UniversityDepartment of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M UniversityAbstract Background 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 CYP19A1 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 CYP19A1 transcript from henny feathering chicken. However, the complete sequence and the genomic position of the insertion were not determined. Results 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 CYP19A1 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. Conclusions We demonstrate that the henny feathering allele harbors an insertion of an intact avian leukosis virus at the 5’end of CYP19A1. The presence of this ERV showed complete concordance with the henny feathering phenotype both within a pedigree segregating for this phenotype and across breeds.http://link.springer.com/article/10.1186/s13100-019-0181-4ChickenHenny featherAromataseEndogenous retrovirusERVLTR |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jingyi Li Brian W. Davis Patric Jern Ben. J. Dorshorst Paul B. Siegel Leif Andersson |
spellingShingle |
Jingyi Li Brian W. Davis Patric Jern Ben. J. Dorshorst Paul B. Siegel Leif Andersson Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken Mobile DNA Chicken Henny feather Aromatase Endogenous retrovirus ERV LTR |
author_facet |
Jingyi Li Brian W. Davis Patric Jern Ben. J. Dorshorst Paul B. Siegel Leif Andersson |
author_sort |
Jingyi Li |
title |
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken |
title_short |
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken |
title_full |
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken |
title_fullStr |
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken |
title_full_unstemmed |
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering in chicken |
title_sort |
characterization of the endogenous retrovirus insertion in cyp19a1 associated with henny feathering in chicken |
publisher |
BMC |
series |
Mobile DNA |
issn |
1759-8753 |
publishDate |
2019-08-01 |
description |
Abstract Background 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 CYP19A1 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 CYP19A1 transcript from henny feathering chicken. However, the complete sequence and the genomic position of the insertion were not determined. Results 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 CYP19A1 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. Conclusions We demonstrate that the henny feathering allele harbors an insertion of an intact avian leukosis virus at the 5’end of CYP19A1. The presence of this ERV showed complete concordance with the henny feathering phenotype both within a pedigree segregating for this phenotype and across breeds. |
topic |
Chicken Henny feather Aromatase Endogenous retrovirus ERV LTR |
url |
http://link.springer.com/article/10.1186/s13100-019-0181-4 |
work_keys_str_mv |
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