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Sökning: WFRF:(Shu Dingming) > (2016) > A Complex Structura...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003644naa a22005893a 4500
00120186971
003SE-LIBR
00520170322164408.0
007cr||||||||||||
008170322s2016 sw |||| o |||| ||eng c
024a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2981452 uri
024a urn:nbn:se:uu:diva-2981452 urn
024a 10.1371/journal.pgen.10060712 doi
040 a S
041a eng
042 9 EPLK
100a Guo, Ying4 aut
2451 0a A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muffs and Beard Phenotype in Chickensh [Elektronisk resurs]
260 c 2016
500 a Published
506a gratis
520 a Muffs and beard (Mb) is a phenotype in chickens where groups of elongated feathers gather from both sides of the face (muffs) and below the beak (beard). It is an autosomal, incomplete dominant phenotype encoded by the Muffs and beard (Mb) locus. Here we use genome-wide association (GWA) analysis, linkage analysis, Identity-by-Descent (IBD) mapping, array-CGH, genome re-sequencing and expression analysis to show that the Mb allele causing the Mb phenotype is a derived allele where a complex structural variation (SV) on GGA27 leads to an altered expression of the gene HOXB8. This Mb allele was shown to be completely associated with the Mb phenotype in nine other independent Mb chicken breeds. The Mb allele differs from the wild-type mb allele by three duplications, one in tandem and two that are translocated to that of the tandem repeat around 1.70 Mb on GGA27. The duplications contain total seven annotated genes and their expression was tested during distinct stages of Mb morphogenesis. A continuous high ectopic expression of HOXB8 was found in the facial skin of Mb chickens, strongly suggesting that HOXB8 directs this regional feather-development. In conclusion, our results provide an interesting example of how genomic structural rearrangements alter the regulation of genes leading to novel phenotypes. Further, it again illustrates the value of utilizing derived phenotypes in domestic animals to dissect the genetic basis of developmental traits, herein providing novel insights into the likely role of HOXB8 in feather development and differentiation.
650 7a Medical and Health Sciences2 hsv
650 7a Basic Medicine2 hsv
650 7a Medical Genetics2 hsv
650 7a Medicin och hälsovetenskap2 hsv
650 7a Medicinska grundvetenskaper2 hsv
650 7a Medicinsk genetik2 hsv
700a Gu, Xiaorong4 aut
700a Sheng, Zheya4 aut
700a Wang, Yanqiang4 aut
700a Luo, Chenglong4 aut
700a Liu, Ranran4 aut
700a Qu, Hao4 aut
700a Shu, Dingming4 aut
700a Wen, Jie4 aut
700a Crooijmans, Richard P M A4 aut
700a Carlborg, Örjan4 aut
700a Zhao, Yiqiang4 aut
700a Hu, Xiaoxiang4 aut
700a Li, Ning4 aut
7101 2a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl
710a Carlborg4 oth
7721 8i channel recordw 19753896
7730 8i Värdpublikationt PLoS Geneticsg 12:6x 1553-7390
8564 0u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-298145
8564 0u http://dx.doi.org/10.1371/journal.pgen.1006071
8564 0u http://uu.diva-portal.org/smash/get/diva2:944774/FULLTEXT01
841 5 APISa x ab 170322||0000|||||001||||||000000e 1
0245 APISa urn:nbn:se:uu:diva-2981452 urn
852 5 APISb APIS
8564 05 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-298145

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