title: Analysis of new Matrilin-1 gene variants in a case-control study related to dental malocclusions in Equus asinus.
abstract: Prognathism and brachygnathism are craniofacial deformities that severely affect the health of human and vertebrates, such as donkeys. The multifactorial etiology of this disease makes the genetic analysis a powerful tool for its understanding and prevention of spreading these deformities. This study aims to contribute to the characterization of the genetic basis of prognathism and brachygnathism in donkeys, using the Zamorano-Leonés donkey, an endangered Spanish breed, as a model. Matrilin-1 (MATN1) polymorphisms have been previously described as markers for mandibular prognathism in Korean and Japanese human populations. Genetic variations in MATN1 gene were sought, in order to verify its association in a case-control study, including 30 donkeys presenting brachygnathism, 30 donkeys presenting prognathism and 30 donkeys with normal occlusion phenotypes. One genetic variation (g503G > A) located in an intronic region of MATN1 gene was identified and characterized. Statistically significant differences were detected between the control group and prognathism cases, but no statistical significant results were found between the control group and the brachygnathism cases. These results support evidence for an important role of MATN1 on prognathism in the analyzed population with MATN1 genetic variation - 503G>A - having a protective effect. Further studies should be developed in order to understand the whole role of MATN1 and the mechanisms affected by its genetic variations.
authors.affiliation: Department of Veterinary Sciences, University of Trás-os-Montes e Alto Douro, Quinta de Prados, P.O. Box 1013, 5001-801 Vila Real, Portugal. joaobrandaorodrigues@gmail.com
authors.forename: João B
authors.initials: JB
authors.lastname: Rodrigues
authors.forename: Stéphane
authors.initials: S
authors.lastname: Araújo
authors.forename: Henrique
authors.initials: H
authors.lastname: Guedes-Pinto
authors.forename: Fidel
authors.initials: F
authors.lastname: San Roman
authors.forename: Carlos
authors.initials: C
authors.lastname: Viegas
authors.forename: Estela
authors.initials: E
authors.lastname: Bastos
mesh_terms: D000818:Animals; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D016022:Case-Control Studies; D018397:Equidae / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008310:Malocclusion / Q000235:genetics / Q000662:veterinary*; D064235:Matrilin Proteins; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011378:Prognathism / Q000235:genetics / Q000662:veterinary*
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C577539:MATN1 protein, human; D064235:Matrilin Proteins; C577553:TSP5 protein, human