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WFRF:(Perloski Michele)
 

Sökning: WFRF:(Perloski Michele) > Genome-wide associa...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004160naa a2200577 4500
001oai:DiVA.org:uu-119516
003SwePub
008100226s2009 | |||||||||||000 ||eng|
009oai:slubar.slu.se:28386
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1195162 URI
0247 a https://doi.org/10.1073/pnas.08122971062 DOI
0247 a https://res.slu.se/id/publ/283862 URI
040 a (SwePub)uud (SwePub)slu
041 a engb engb -1
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Awano, Tomoyuki4 aut
2451 0a Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis
264 c 2009-02-24
264 1b Proceedings of the National Academy of Sciences,c 2009
338 a print2 rdacarrier
520 a Canine degenerative myelopathy (DM) is a fatal neurodegenerative disease prevalent in several dog breeds. Typically, the initial progressive upper motor neuron spastic and general proprioceptive ataxia in the pelvic limbs occurs at 8 years of age or older. If euthanasia is delayed, the clinical signs will ascend, causing flaccid tetraparesis and other lower motor neuron signs. DNA samples from 38 DM-affected Pembroke Welsh corgi cases and 17 related clinically normal controls were used for genome-wide association mapping, which produced the strongest associations with markers on CFA31 in a region containing the canine SOD1 gene. SOD1 was considered a regional candidate gene because mutations in human SOD1 can cause amyotrophic lateral sclerosis (ALS), an adult-onset fatal paralytic neurodegenerative disease with both upper and lower motor neuron involvement. The resequencing of SOD1 in normal and affected dogs revealed a G to A transition, resulting in an E40K missense mutation. Homozygosity for the A allele was associated with DM in 5 dog breeds: Pembroke Welsh corgi, Boxer, Rhodesian ridgeback, German Shepherd dog, and Chesapeake Bay retriever. Microscopic examination of spinal cords from affected dogs revealed myelin and axon loss affecting the lateral white matter and neuronal cytoplasmic inclusions that bind anti-superoxide dismutase 1 antibodies. These inclusions are similar to those seen in spinal cord sections from ALS patients with SOD1 mutations. Our findings identify canine DM to be the first recognized spontaneously occurring animal model for ALS.
520 a 
650 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
653 a MEDICINE
653 a MEDICIN
7001 a Johnson, Gary S.4 aut
7001 a Wade, Claire M.4 aut
7001 a Katz, Martin L.4 aut
7001 a Johnson, Gayle C.4 aut
7001 a Taylor, Jeremy F.4 aut
7001 a Perloski, Michele4 aut
7001 a Biagi, Tara4 aut
7001 a Baranowska, Izabellau Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics4 aut0 (Swepub:slu)52825
7001 a Long, Sam4 aut
7001 a March, Philip A.4 aut
7001 a Olby, Natasha J.4 aut
7001 a Shelton, G. Diane4 aut
7001 a Khan, Shahnawaz4 aut
7001 a O'Brien, Dennis P.4 aut
7001 a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)kerli865
7001 a Coates, Joan R.4 aut
7102 a Sveriges lantbruksuniversitetb Institutionen för husdjursgenetik (HGEN)4 org
7102 a Sveriges lantbruksuniversitet
7730 t Proceedings of the National Academy of Sciences of the United States of Americad : Proceedings of the National Academy of Sciencesg 106:8, s. 2794-2799q 106:8<2794-2799x 0027-8424x 1091-6490
8564 u http://www.pnas.org/content/106/8/2794.full.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-119516
8564 8u https://doi.org/10.1073/pnas.0812297106
8564 8u https://res.slu.se/id/publ/28386

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