onr:"20188522"
Sökning: onr:"20188522" > Large Deletions at ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04626naa a22008413a 4500 | |
| 001 | 20188522 | |
| 003 | SE-LIBR | |
| 005 | 20170322180741.0 | |
| 007 | cr|||||||||||| | |
| 008 | 170322s2016 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3005472 uri |
| 024 | 7 | a urn:nbn:se:uu:diva-3005472 urn |
| 024 | 7 | a 10.1534/g3.116.0296452 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Rafati, Nima4 aut |
| 245 | 1 0 | a Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Poniesh [Elektronisk resurs] |
| 260 | c 2016 | |
| 500 | a Published | |
| 506 | 0 | a gratis |
| 520 | a Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which were scattered on genome assembly unassigned scaffolds. Read depth analysis at these loci revealed homozygosity or compound heterozygosity for two partially overlapping large deletions in the pseudoautosomal region (PAR) of chromosome X/Y in cases but not in the control pool. One of these deletions removes the entire coding region of the SHOX gene and both deletions remove parts of the CRLF2 gene located downstream of SHOX. The horse reference assembly of the PAR is highly fragmented, and in order to characterize this region we sequenced bacterial artificial chromosome (BAC) clones by single-molecule real-time (SMRT) sequencing technology. This considerably improved the assembly and enabled size estimations of the two deletions to 1602180 kb and 60280 kb, respectively. Complete association between the presence of these deletions and disease status was verified in eight other affected horses. The result of the present study is consistent with previous studies in humans showing crucial importance of SHOX for normal skeletal development. | |
| 650 | 7 | a Natural Sciences2 hsv |
| 650 | 7 | a Biological Sciences2 hsv |
| 650 | 7 | a Genetics2 hsv |
| 650 | 7 | a Naturvetenskap2 hsv0 264446 |
| 650 | 7 | a Biologiska vetenskaper2 hsv |
| 650 | 7 | a Genetik2 hsv |
| 653 | 0 | a SMRT sequencing |
| 653 | 0 | a skeletal atavism |
| 653 | 0 | a SHOX |
| 653 | 0 | a PAR |
| 700 | 1 | a Andersson, Lisa S.4 aut |
| 700 | 1 | a Mikko, Sofia4 aut |
| 700 | 1 | a Feng, Chungang4 aut |
| 700 | 1 | a Raudsepp, Terje4 aut |
| 700 | 1 | a Pettersson, Jessica4 aut |
| 700 | 1 | a Janecka, Jan4 aut |
| 700 | 1 | a Wattle, Ove4 aut |
| 700 | 1 | a Ameur, Adam4 aut |
| 700 | 1 | a Thyreen, Gunilla4 aut |
| 700 | 1 | a Eberth, John4 aut |
| 700 | 1 | a Huddleston, John4 aut |
| 700 | 1 | a Malig, Maika4 aut |
| 700 | 1 | a Bailey, Ernest4 aut |
| 700 | 1 | a Eichler, Evan E.4 aut |
| 700 | 1 | a Dalin, Goran4 aut |
| 700 | 1 | a Chowdary, Bhanu4 aut |
| 700 | 1 | a Andersson, Leif4 aut |
| 700 | 1 | a Lindgren, Gabriella4 aut |
| 700 | 1 | a Rubin, Carl-Johan4 aut |
| 710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
| 710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
| 772 | 1 8 | i channel recordw 19753896 |
| 773 | 0 8 | i Värdpublikationt G3g 6:7, 2213-2223x 2160-1836 |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-300547 |
| 856 | 4 0 | u http://dx.doi.org/10.1534/g3.116.029645 |
| 856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:951710/FULLTEXT01 |
| 950 | k | 6 650a Atomerw hu Naturvetenskap |
| 950 | k | 6 650a Experimentw hu Naturvetenskap |
| 950 | k | 6 650a Fysikw hu Naturvetenskap |
| 950 | k | 6 650a Kemiw hu Naturvetenskap |
| 950 | k | 6 650a Kloningw hu Naturvetenskap |
| 950 | k | 6 650a Laboratorierw hu Naturvetenskap |
| 950 | k | 6 650a Marinbiologiw hu Naturvetenskap |
| 950 | k | 6 650a Matematikw hu Naturvetenskap |
| 950 | k | 6 650a Medicinska experimentw hu Naturvetenskap |
| 950 | k | 6 650a Tyngdlagenw hu Naturvetenskap |
| 950 | k | 6 650a Utvecklingsläraw hu Naturvetenskap |
| 841 | 5 APISa x ab 170322||0000|||||001||||||000000e 1 | |
| 024 | 7 | 5 APISa urn:nbn:se:uu:diva-3005472 urn |
| 852 | 5 APISb APIS | |
| 856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-300547 |
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