Detection of deleterious alleles through absence of homozygous haplotypes in dogs

• Grant number: 17/08373-1
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: July 01, 2017
• End date: November 30, 2018
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Reproduction
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: José Fernando Garcia
• Grantee: Rafaela Beatriz Pintor Torrecilha
• Host Institution: Faculdade de Ciências Agrárias e Veterinárias (FCAV). Universidade Estadual Paulista (UNESP). Campus de Jaboticabal. Jaboticabal , SP, Brazil

Abstract

Deleterious variants (delVars) are alterations in the DNA sequence that can cause partial or total loss of gene function. The domestic dog (Canis lupus familiaris) has low genetic variability and high frequency of delVars. The accumulation of deleterious mutations makes the dog an excellent model for the study of human physiology and disease. Tools for genomic analyses, such as the SNP (single nucleotide polymorphism) chips, can help in the detection of genes and variants responsible for genetics diseases in several species. These chips allow for mapping deleterious variants through the search of highly frequent haplotypes that present deficit of homozygosity. The objective of this project is to search for haplotypes in linkage with delVars that could be responsible for embryonic, fetal or perinatal death. This information can be useful in breeding programs to reduce incidence of genetic diseases, as well as contribute to elucidate physiological mechanisms involved with the manifestation of delVars in dogs and other species. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

UTSUNOMIYA, YURI TANI; PINTOR TORRECILHA, RAFAELA BEATRIZ; MILANESI, MARCO; PAULAN, SILVANA DE CASSIA; HARTH UTSUNOMIYA, ADAM TAITI; GARCIA, JOSE FERNANDO. Hornless Nellore cattle (Bos indicus) carrying a novel 110 kbp duplication variant of the polled locus. ANIMAL GENETICS, v. 50, n. 2, p. 2-pg., 2019-04-01. (16/05787-7, 10/52030-2, 17/08373-1)

TORRECILHA, R. B. P.; MILANESI, M.; GALLANA, M.; FALBO, A. -K.; REICHLER, I. M.; HUG, P.; JAGANNATHAN, V.; TRIGO, B. B.; PAULAN, S. C.; BRUNO, D. B.; et al. Association of missense variants in GDF9 with litter size in Entlebucher Mountain dogs. ANIMAL GENETICS, v. 51, n. 1, p. 78-86, FEB 2020. (17/08373-1, 16/05787-7)

AGUIAR, TAMIRIS SAYURI; PINTOR TORRECILHA, RAFAELA BEATRIZ; MILANESI, MARCO; HARTH UTSUNOMIYA, ADAM TAITI; TRIGO, BEATRIZ BATISTA; TIJJANI, ABDULFATAI; MUSA, HASSAN HUSSEIN; LOPES, FLAVIA LOMBARDI; AJMONE-MARSAN, PAOLO; CARVALHEIRO, ROBERTO; et al. Association of Copy Number Variation at Intron 3 of HMGA2 With Navel Length in Bos indicus. FRONTIERS IN GENETICS, v. 9, DEC 7 2018. (14/01095-8, 16/07531-0, 16/05787-7, 10/52030-2, 17/08373-1)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

TORRECILHA, Rafaela Beatriz Pintor. Genome-wide scans for the detection of genetic variants associated with reproductive performance in dogs. 2018. Doctoral Thesis - Universidade Estadual Paulista (Unesp). Faculdade de Ciências Agrárias e Veterinárias. Jaboticabal Jaboticabal.