RT Journal Article T1 Identification of genomic regions regulating sex determination in Atlantic salmon using high density SNP data A1 Gabián Álvarez, María A1 Morán Martínez, Maria Paloma A1 Fernández Ávila, Ana Isabel A1 Villanueva, Beatriz A1 Chtioui, Amel A1 Kent, Matthew P A1 Covelo Soto, Lara A1 Fernández Muñoz, Almudena A1 Saura Álvarez, María K1 2409.03 Genética de Poblaciones K1 2401.19 Zoología Marina K1 2409.90 Citogenética Animal AB Background: A complete understanding of the genetic basis for sexual determination and differentiation isnecessary in order to implement efficient breeding schemes at early stages of development. Atlantic salmonbelongs to the family Salmonidae of fishes and represents a species of great commercial value. Although thespecies is assumed to be male heterogametic with XY sex determination, the precise genetic basis of sexualdevelopment remains unclear. The complexity is likely associated to the relatively recent salmonid specific wholegenome duplication that may be responsible for certain genome instability. This instability together with thecapacity of the sex-determining gene to move across the genome as reported by previous studies, may explainthat sexual development genes are not circumscribed to the same chromosomes in all members of the species. Inthis study, we have used a 220 K SNP panel developed for Atlantic salmon to identify the chromosomes explainingthe highest proportion of the genetic variance for sex as well as candidate regions and genes associated to sexualdevelopment in this species.Results: Results from regional heritability analysis showed that the chromosomes explaining the highest proportionof variance in these populations were Ssa02 (heritability = 0.42, SE = 0.12) and Ssa21 (heritability = 0.26, SE = 0.11).After pruning by linkage disequilibrium, genome-wide association analyses revealed 114 SNPs that weresignificantly associated with sex, being Ssa02 the chromosome containing a greatest number of regions. Closeexamination of the candidate regions evidenced important genes related to sex in other species of ClassActinopterygii, including SDY, genes from family SOX, RSPO1, ESR1, U2AF2A, LMO7, GNRH-R, DND and FIGLA.Conclusions: The combined results from regional heritability analysis and genome-wide association have providednew advances in the knowledge of the genetic regulation of sex determination in Atlantic salmon, supporting thatSsa02 is the candidate chromosome for sex in this species and suggesting an alternative population lineage inSpanish wild populations according to the results from Ssa21. PB BMC Genomics SN 14712164 YR 2019 FD 2019-10-22 LK http://hdl.handle.net/11093/4157 UL http://hdl.handle.net/11093/4157 LA eng NO BMC Genomics, 20(1): 764 (2019) NO Ministerio de Economía y Competitividad | Ref. RZ2012–00011-C02–00 DS Investigo RD 08-feb-2025