WFRF:(Archer R)
Sökning: WFRF:(Archer R) > (2010-2014) > Fine-mapping and mu...
LIBRIS Formathandbok (Information om MARC21)
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04222naa a2200553 4500 | |
| 001 | oai:DiVA.org:uu-135718 | |
| 003 | SwePub | |
| 008 | 101208s2010 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1357182 URI |
| 024 | 7 | a https://doi.org/10.1093/bfgp/elq0022 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Bellone, Rebecca R4 aut |
| 245 | 1 0 | a Fine-mapping and mutation analysis of TRPM1 :b a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses |
| 264 | c 2010-03-29 | |
| 264 | 1 | b Oxford University Press (OUP),c 2010 |
| 338 | a print2 rdacarrier | |
| 520 | a Leopard Complex spotting occurs in several breeds of horses and is caused by an incompletely dominant allele (LP). Homozygosity for LP is also associated with congenital stationary night blindness (CSNB) in Appaloosa horses. Previously, LP was mapped to a 6 cm region on ECA1 containing the candidate gene TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) and decreased expression of this gene, measured by qRT-PCR, was identified as the likely cause of both spotting and ocular phenotypes. This study describes investigations for a mutation causing or associated with the Leopard Complex and CSNB phenotype in horses. Re-sequencing of the gene and associated splice sites within the 105 624 bp genomic region of TRPM1 led to the discovery of 18 SNPs. Most of the SNPs did not have a predictive value for the presence of LP. However, one SNP (ECA1:108,249,293 C>T) found within intron 11 had a strong (P < 0.0005), but not complete, association with LP and CSNB and thus is a good marker but unlikely to be causative. To further localize the association, 70 SNPs spanning over two Mb including the TRPM1 gene were genotyped in 192 horses from three different breeds segregating for LP. A single 173 kb haplotype associated with LP and CSNB (ECA1: 108,197,355- 108,370,150) was identified. Illumina sequencing of 300 kb surrounding this haplotype revealed 57 SNP variants. Based on their localization within expressed sequences or regions of high sequence conservation across mammals, six of these SNPs were considered to be the most likely candidate mutations. While the precise function of TRPM1 remains to be elucidated, this work solidifies its functional role in both pigmentation and night vision. Further, this work has identified several potential regulatory elements of the TRPM1 gene that should be investigated further in this and other species. | |
| 650 | 7 | a NATURVETENSKAPx Biologi0 (SwePub)1062 hsv//swe |
| 650 | 7 | a NATURAL SCIENCESx Biological Sciences0 (SwePub)1062 hsv//eng |
| 653 | a Leopard Complex spotting | |
| 653 | a congenital stationary night blindness | |
| 653 | a Transient Receptor Potential Cation Channel | |
| 653 | a Subfamily M | |
| 653 | a Member 1 | |
| 653 | a fine mapping | |
| 653 | a Illumina DNA sequencing | |
| 653 | a Biology | |
| 653 | a Biologi | |
| 700 | 1 | a Forsyth, George4 aut |
| 700 | 1 | a Leeb, Tosso4 aut |
| 700 | 1 | a Archer, Sheila4 aut |
| 700 | 1 | a Sigurdsson, Snaevar4 aut |
| 700 | 1 | a Imsland, Freyjau Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)freim763 |
| 700 | 1 | a Mauceli, Evan4 aut |
| 700 | 1 | a Engensteiner, Martina4 aut |
| 700 | 1 | a Bailey, Ernest4 aut |
| 700 | 1 | a Sandmeyer, Lynne4 aut |
| 700 | 1 | a Grahn, Bruce4 aut |
| 700 | 1 | a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)kerli865 |
| 700 | 1 | a Wade, Claire M4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för medicinsk biokemi och mikrobiologi4 org |
| 773 | 0 | t Briefings in Functional Genomics & Proteomicsd : Oxford University Press (OUP)g 9:3, s. 193-207q 9:3<193-207x 1473-9550x 1477-4062x 2041-2649x 2041-2657 |
| 856 | 4 | u https://academic.oup.com/bfg/article-pdf/9/3/193/540783/elq002.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-135718 |
| 856 | 4 8 | u https://doi.org/10.1093/bfgp/elq002 |
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