A Cis-regulatory Mutation of PDSS2 Causes Silky-feather in Chickens

Overview

Journal PLoS Genet

Specialty Genetics

Date 2014 Aug 29

PMID 25166907

Citations 19

Authors

Chungang Feng

Yu Gao

Ben Dorshorst

Chi Song

Xiaorong Gu

Qingyuan Li

Jinxiu Li

Tongxin Liu

Carl-Johan Rubin

Yiqiang Zhao

Yanqiang Wang

Jing Fei

Huifang Li

Kuanwei Chen

Hao Qu

Dingming Shu

Chris Ashwell

Yang Da

Leif Andersson

Xiaoxiang Hu

Ning Li

Affiliations

Soon will be listed here.

Abstract

Silky-feather has been selected and fixed in some breeds due to its unique appearance. This phenotype is caused by a single recessive gene (hookless, h). Here we map the silky-feather locus to chromosome 3 by linkage analysis and subsequently fine-map it to an 18.9 kb interval using the identical by descent (IBD) method. Further analysis reveals that a C to G transversion located upstream of the prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2) gene is causing silky-feather. All silky-feather birds are homozygous for the G allele. The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro. We report a new example of feather structure variation associated with a spontaneous mutation and provide new insight into the PDSS2 function.

Citing Articles

Genetic diversity, demographic history, and selective signatures of Silkie chicken.

Huang R, Zhu C, Zhen Y BMC Genomics. 2024; 25(1):754.

PMID: 39095706 PMC: 11295612. DOI: 10.1186/s12864-024-10671-x.

A comparative analysis reveals the genomic diversity among 8 Muscovy duck populations.

Li T, Wang Y, Zhang Z, Ji C, Zheng N, Huang Y G3 (Bethesda). 2024; 14(7).

PMID: 38789099 PMC: 11228869. DOI: 10.1093/g3journal/jkae112.

Transcriptome and Weighted Gene Co-Expression Network Analysis for Feather Follicle Density in a Chinese Indigenous Breed.

Wang J, Wei W, Xing C, Wang H, Liu M, Xu J Animals (Basel). 2024; 14(1).

PMID: 38200904 PMC: 10778273. DOI: 10.3390/ani14010173.

A chromosome-level genome assembly for the Silkie chicken resolves complete sequences for key chicken metabolic, reproductive, and immunity genes.

Zhu F, Yin Z, Zhao Q, Sun Y, Jie Y, Smith J Commun Biol. 2023; 6(1):1233.

PMID: 38057566 PMC: 10700341. DOI: 10.1038/s42003-023-05619-y.

Molecular Regulatory Mechanisms in Chicken Feather Follicle Morphogenesis.

Ji G, Zhang M, Tu Y, Liu Y, Shan Y, Ju X Genes (Basel). 2023; 14(8).

PMID: 37628697 PMC: 10454116. DOI: 10.3390/genes14081646.

References

Li Q, Gao K, Vinther J, Shawkey M, Clarke J, DAlba L . Plumage color patterns of an extinct dinosaur. Science. 2010; 327(5971):1369-72. DOI: 10.1126/science.1186290. View

Harris M, Fallon J, Prum R . Shh-Bmp2 signaling module and the evolutionary origin and diversification of feathers. J Exp Zool. 2002; 294(2):160-76. DOI: 10.1002/jez.10157. View

Gu X, Feng C, Ma L, Song C, Wang Y, Da Y . Genome-wide association study of body weight in chicken F2 resource population. PLoS One. 2011; 6(7):e21872. PMC: 3136483. DOI: 10.1371/journal.pone.0021872. View

Lopez L, Schuelke M, Quinzii C, Kanki T, Rodenburg R, Naini A . Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006; 79(6):1125-9. PMC: 1698707. DOI: 10.1086/510023. View

Yu M, Wu P, Widelitz R, Chuong C . The morphogenesis of feathers. Nature. 2002; 420(6913):308-12. PMC: 4386656. DOI: 10.1038/nature01196. View

Widelitz R, Jiang T, Chen C, Stott N, Jung H, Chuong C . Wnt-7a in feather morphogenesis: involvement of anterior-posterior asymmetry and proximal-distal elongation demonstrated with an in vitro reconstitution model. Development. 1999; 126(12):2577-87. DOI: 10.1242/dev.126.12.2577. View

Imsland F, Feng C, Boije H, BedHom B, Fillon V, Dorshorst B . The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. PLoS Genet. 2012; 8(6):e1002775. PMC: 3386170. DOI: 10.1371/journal.pgen.1002775. View

Dorshorst B, Okimoto R, Ashwell C . Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken. J Hered. 2010; 101(3):339-50. DOI: 10.1093/jhered/esp120. View

Chuong C . Sonic Hedgehog in feather morphogenesis: induction of mesenchymal condensation and association with cell death. Dev Dyn. 1996; 207(2):157-70. DOI: 10.1002/(SICI)1097-0177(199610)207:2<157::AID-AJA4>3.0.CO;2-G. View

10.

Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel A, Kel O . Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res. 1998; 26(1):362-7. PMC: 147251. DOI: 10.1093/nar/26.1.362. View

11.

Quinzii C, Garone C, Emmanuele V, Tadesse S, Krishna S, Dorado B . Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice. FASEB J. 2012; 27(2):612-21. PMC: 3545522. DOI: 10.1096/fj.12-209361. View

12.

Chatterjee S, Pal J . Role of 5'- and 3'-untranslated regions of mRNAs in human diseases. Biol Cell. 2009; 101(5):251-62. DOI: 10.1042/BC20080104. View

13.

Prum R, Dyck J . A hierarchical model of plumage: morphology, development, and evolution. J Exp Zool B Mol Dev Evol. 2003; 298(1):73-90. DOI: 10.1002/jez.b.27. View

14.

Mignone F, Gissi C, Liuni S, Pesole G . Untranslated regions of mRNAs. Genome Biol. 2002; 3(3):REVIEWS0004. PMC: 139023. DOI: 10.1186/gb-2002-3-3-reviews0004. View

15.

Pillar T, Seitz H . Thyroid hormone and gene expression in the regulation of mitochondrial respiratory function. Eur J Endocrinol. 1997; 136(3):231-9. DOI: 10.1530/eje.0.1360231. View

16.

Xu X, Zheng X, You H . Exceptional dinosaur fossils show ontogenetic development of early feathers. Nature. 2010; 464(7293):1338-41. DOI: 10.1038/nature08965. View

17.

Jung H, Francis-West P, Widelitz R, Jiang T, Tickle C, Wolpert L . Local inhibitory action of BMPs and their relationships with activators in feather formation: implications for periodic patterning. Dev Biol. 1998; 196(1):11-23. DOI: 10.1006/dbio.1998.8850. View

18.

King M, Wilson A . Evolution at two levels in humans and chimpanzees. Science. 1975; 188(4184):107-16. DOI: 10.1126/science.1090005. View

19.

Gao Y, Du Z, Wei W, Yu X, Deng X, Feng C . Mapping quantitative trait loci regulating chicken body composition traits. Anim Genet. 2009; 40(6):952-4. DOI: 10.1111/j.1365-2052.2009.01911.x. View

20.

Prum R, Brush A . The evolutionary origin and diversification of feathers. Q Rev Biol. 2002; 77(3):261-95. DOI: 10.1086/341993. View