Association analysis of candidate SNPs in <i>TRPM1</i> with leopard complex spotting (<i>LP</i> ) and congenital stationary night blindness (CSNB) in horses
Notice bibliographique
Résumé
Leopard complex spotting occurs in several breeds of horses and is caused by a single incompletely dominant autosomal locus, LP.1 In the Appaloosa breed, homozygosity for LP has been associated with congenital stationary night blindness (CSNB).2 Decreased expression of TRPM1 has been implicated as the cause for both LP and CSNB.3LP and CSNB were fine-mapped to a 173 -kb haplotype on ECA1 and Illumina sequencing identified six SNPs for further investigation (Table 1).4 In this study, we investigate these six SNPs for association with CSNB in the Appaloosa and for association with LP in several breeds of horses. DNA was isolated from blood or hair of unrelated horses from breeds segregating for LP: Appaloosa (N = 205), Knabstrupper (N = 66), Noriker (N = 112), American Miniature (N = 63), Pony of the America (N = 20), British Spotted Pony (N = 25), and Australian Spotted Pony (N = 10). DNA was also isolated from the Thoroughbred (N = 37) and American Quarter Horse (N = 3), which are breeds not segregating for LP. LP genotype and CSNB status were determined as previously described.3 Initially, all six SNPs were investigated by PCR amplification and sequencing DNA from 10 individuals (Table 1). Three of these SNPs did not show complete association with LP genotype in this panel and were excluded as the causative mutation and thus not investigated further. The other three SNPs showed complete association and were either genotyped by direct sequencing or by custom TaqMan genotyping assays in 531 additional individuals (Assay IDs AHS0Q19, AHRRSV1, and AHT9O8H, Applied Biosystems) (Table 1). All TaqMan assays were performed in 5 -μL reactions on a Mastercyler® ep realplex thermocycler (Eppendorf). ECA1 g.108281765T>C, ECA1 g.108288853C>T, and ECA1 g.108337089T>G genotypes were analysed for association with LP genotype and CSNB status by chi-squared analysis. All three SNPs were completely associated with LP (N = 513, X2 = 1026, P ≪ 0.0005) and CSNB (N = 28, X2 = 28, P ≪ 0.0005). It is possible that one of these SNPs is the causative mutation for LP and CSNB. However, none of these are located in exonic regions that have previously been characterized, and thus further investigation is warranted.4 It is also likely that these SNPs may simply be associated and are not causative. Nevertheless, any of these SNPs could be used as a DNA test for LP and CSNB until the causative mutation has been identified or confirmed. The authors thank all of the horse owners who provided samples. We thank Karla Brown, Scott Lawson, Elizabeth Kowalski and Janelle Nelson for their assistance in DNA extraction and Dominic Trillizio for his technical assistance. We acknowledge Eppendorf for use of equipment. This study was supported by the Heather Ryan and L. David Dube′ Veterinary Health and Research Fund and a Dana Faculty Development Grant from the University of Tampa. The authors have declared no potential conflicts.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».