The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus).
Luca Fontanesi,Manuela Vargiolu,Emilio Scotti,Rocco Latorre,Maria Simonetta Faussone Pellegrini,Maurizio Mazzoni,Martina Asti,Roberto Chiocchetti,Giovanni Romeo,Paolo Clavenzani,Roberto De Giorgio +10 more
TLDR
The KIT gene is investigated as a candidate for the English spotting locus in Checkered Giant rabbits and the abnormalities affecting enteric neurons and c-kit positive interstitial cells of Cajal (ICC) in the megacolon of En/En rabbits are characterized.Abstract:
The English spotting coat color locus in rabbits, also known as Dominant white spotting locus, is determined by an incompletely dominant allele (En). Rabbits homozygous for the recessive wild-type allele (en/en) are self-colored, heterozygous En/en rabbits are normally spotted, and homozygous En/En animals are almost completely white. Compared to vital en/en and En/en rabbits, En/En animals are subvital because of a dilated (“mega”) cecum and ascending colon. In this study, we investigated the role of the KIT gene as a candidate for the English spotting locus in Checkered Giant rabbits and characterized the abnormalities affecting enteric neurons and c-kit positive interstitial cells of Cajal (ICC) in the megacolon of En/En rabbits. Twenty-one litters were obtained by crossing three Checkered Giant bucks (En/en) with nine Checkered Giant (En/en) and two en/en does, producing a total of 138 F1 and backcrossed rabbits. Resequencing all coding exons and portions of non-coding regions of the KIT gene in 28 rabbits of different breeds identified 98 polymorphisms. A single nucleotide polymorphism genotyped in all F1 families showed complete cosegregation with the English spotting coat color phenotype (θ = 0.00 LOD = 75.56). KIT gene expression in cecum and colon specimens of En/En (pathological) rabbits was 5–10% of that of en/en (control) rabbits. En/En rabbits showed reduced and altered c-kit immunolabelled ICC compared to en/en controls. Morphometric data on whole mounts of the ascending colon showed a significant decrease of HuC/D (P<0.05) and substance P (P<0.01) immunoreactive neurons in En/En vs. en/en. Electron microscopy analysis showed neuronal and ICC abnormalities in En/En tissues. The En/En rabbit model shows neuro-ICC changes reminiscent of the human non-aganglionic megacolon. This rabbit model may provide a better understanding of the molecular abnormalities underlying conditions associated with non-aganglionic megacolon.read more
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Variations in endothelin receptor B subtype 2 (EDNRB2) coding sequences and mRNA expression levels in 4 Muscovy duck plumage colour phenotypes.
TL;DR: Endothelin receptor B subtype 2 (EDNRB2) is a paralog of EDNRB, which encodes a 7-transmembrane G-protein coupled receptor, which was reported to be essential for melanoblast migration in mammals and ducks.
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La génomique du lapin : avancées, applications et perspectives
Hervé Garreau,Mélanie Gunia +1 more
TL;DR: Le principe des outils (cartes génétiques, puces SNP, séquençage) and des méthodes (détection de QTL, approche gènes candidats, identification of mutations causales) qui ont déjà été appliqués chez le lapin are revealed.
Genetics of human enteric neurophaties
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Phenoloxidase activity and haemolymph cytology in honeybees challenged with a virus suspension (deformed wings virus DWV) or phosphate buffered suspension (PBS)
Francesca Millanta,Simona Sagona,Maurizio Mazzei,Mario Forzan,Alessandro Poli,Antonio Felicioli +5 more
TL;DR: Light is shed on the relation between cell immunity and the phenoloxidase activity of DWV-naturally infected honeybees exposed to additional stress such as injury and viral superinfection.
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Growth performance, mortality and body and carcass characteristics of rabbit fatteners related to crossbreeding of Mecklenburger Schecke sires with dam line of HYLA rabbits
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W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
Jan D. Huizinga,Lars Thuneberg,Michael Klüppel,Michael Klüppel,John Malysz,H. B. Mikkelsen,Alan Bernstein,Alan Bernstein +7 more
TL;DR: It is shown that the interstitial cells of Cajal express the Kit receptor tyrosine kinase, and mice with mutations in the dominant white spotting locus, which have cellular defects in haematopoiesis, melanogenesis and gametogenesis, also lack the network of intestitial cells ofCajal associated with Auerbach's nerve plexus and intestinal pacemaker activity.
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