Sökning: onr:"20186971" > A Complex Structura...
Fältnamn | Indikatorer | Metadata |
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000 | 03644naa a22005893a 4500 | |
001 | 20186971 | |
003 | SE-LIBR | |
005 | 20170322164408.0 | |
007 | cr|||||||||||| | |
008 | 170322s2016 sw |||| o |||| ||eng c | |
024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2981452 uri |
024 | 7 | a urn:nbn:se:uu:diva-2981452 urn |
024 | 7 | a 10.1371/journal.pgen.10060712 doi |
040 | a S | |
041 | 0 | a eng |
042 | 9 EPLK | |
100 | 1 | a Guo, Ying4 aut |
245 | 1 0 | a 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 | |
506 | 0 | a 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 | 7 | a Medical and Health Sciences2 hsv |
650 | 7 | a Basic Medicine2 hsv |
650 | 7 | a Medical Genetics2 hsv |
650 | 7 | a Medicin och hälsovetenskap2 hsv |
650 | 7 | a Medicinska grundvetenskaper2 hsv |
650 | 7 | a Medicinsk genetik2 hsv |
700 | 1 | a Gu, Xiaorong4 aut |
700 | 1 | a Sheng, Zheya4 aut |
700 | 1 | a Wang, Yanqiang4 aut |
700 | 1 | a Luo, Chenglong4 aut |
700 | 1 | a Liu, Ranran4 aut |
700 | 1 | a Qu, Hao4 aut |
700 | 1 | a Shu, Dingming4 aut |
700 | 1 | a Wen, Jie4 aut |
700 | 1 | a Crooijmans, Richard P M A4 aut |
700 | 1 | a Carlborg, Örjan4 aut |
700 | 1 | a Zhao, Yiqiang4 aut |
700 | 1 | a Hu, Xiaoxiang4 aut |
700 | 1 | a Li, Ning4 aut |
710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
710 | 2 | a Carlborg4 oth |
772 | 1 8 | i channel recordw 19753896 |
773 | 0 8 | i Värdpublikationt PLoS Geneticsg 12:6x 1553-7390 |
856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-298145 |
856 | 4 0 | u http://dx.doi.org/10.1371/journal.pgen.1006071 |
856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:944774/FULLTEXT01 |
841 | 5 APISa x ab 170322||0000|||||001||||||000000e 1 | |
024 | 7 | 5 APISa urn:nbn:se:uu:diva-2981452 urn |
852 | 5 APISb APIS | |
856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-298145 |
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