title: Genome sequencing and analysis of Mangalica, a fatty local pig of Hungary.
abstract: BACKGROUND
  Mangalicas are fatty type local/rare pig breeds with an increasing presence in the niche pork market in Hungary and in other countries. To explore their genetic resources, we have analysed data from next-generation sequencing of an individual male from each of three Mangalica breeds along with a local male Duroc pig. Structural variations, such as SNPs, INDELs and CNVs, were identified and particular genes with SNP variations were analysed with special emphasis on functions related to fat metabolism in pigs.
  
  
  RESULTS
  More than 60 Gb of sequence data were generated for each of the sequenced individuals, resulting in 11× to 19× autosomal median coverage. After stringent filtering, around six million SNPs, of which approximately 10% are novel compared to the dbSNP138 database, were identified in each animal. Several hundred thousands of INDELs and about 1,000 CNV gains were also identified. The functional annotation of genes with exonic, non-synonymous SNPs, which are common in all three Mangalicas but are absent in either the reference genome or the sequenced Duroc of this study, highlighted 52 genes in lipid metabolism processes. Further analysis revealed that 41 of these genes are associated with lipid metabolic or regulatory pathways, 49 are in fat-metabolism and fatness-phenotype QTLs and, with the exception of ACACA, ANKRD23, GM2A, KIT, MOGAT2, MTTP, FASN, SGMS1, SLC27A6 and RETSAT, have not previously been associated with fat-related phenotypes.
  
  
  CONCLUSIONS
  Genome analysis of Mangalica breeds revealed that local/rare breeds could be a rich source of sequence variations not present in cosmopolitan/industrial breeds. The identified Mangalica variations may, therefore, be a very useful resource for future studies of agronomically important traits in pigs.
authors.forename: János
authors.initials: J
authors.lastname: Molnár
authors.forename: Tibor
authors.initials: T
authors.lastname: Nagy
authors.forename: Viktor
authors.initials: V
authors.lastname: Stéger
authors.forename: Gábor
authors.initials: G
authors.lastname: Tóth
authors.affiliation: Agricultural Genomics and Bioinformatics Group, Agricultural Biotechnology Institute, NARIC, Gödöllő, Hungary. marincsf@abc.hu.
authors.forename: Ferenc
authors.initials: F
authors.lastname: Marincs
authors.forename: Endre
authors.initials: E
authors.lastname: Barta
mesh_terms: D000818:Animals; D001947:Breeding; D002874:Chromosome Mapping; D019295:Computational Biology; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial; D005223:Fats / Q000378:metabolism; D016678:Genome; D023281:Genomics; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006814:Hungary; D054643:INDEL Mutation; D008297:Male; D053858:Metabolic Networks and Pathways; D058977:Molecular Sequence Annotation; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D015398:Signal Transduction; D034421:Sus scrofa / Q000235:genetics* / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D005223:Fats