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1.
Trends Genet ; 39(7): 545-559, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36801111

RESUMO

The availability of public genomic resources can greatly assist biodiversity assessment, conservation, and restoration efforts by providing evidence for scientifically informed management decisions. Here we survey the main approaches and applications in biodiversity and conservation genomics, considering practical factors, such as cost, time, prerequisite skills, and current shortcomings of applications. Most approaches perform best in combination with reference genomes from the target species or closely related species. We review case studies to illustrate how reference genomes can facilitate biodiversity research and conservation across the tree of life. We conclude that the time is ripe to view reference genomes as fundamental resources and to integrate their use as a best practice in conservation genomics.


Assuntos
Biodiversidade , Conservação dos Recursos Naturais , Genômica , Genoma
2.
Glob Chang Biol ; 25(1): 134-143, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30300937

RESUMO

Climate warming and harvesting affect the dynamics of species across the globe through a multitude of mechanisms, including distribution changes. In fish, migrations to and distribution on spawning grounds are likely influenced by both climate warming and harvesting. The Northeast Arctic (NEA) cod (Gadus morhua) performs seasonal migrations from its feeding grounds in the Barents Sea to spawning grounds along the Norwegian coast. The distribution of cod between the spawning grounds has historically changed at decadal scales, mainly due to variable use of the northern and southern margins of the spawning area. Based on historical landing records, two major hypotheses have been put forward to explain these changes: climate and harvesting. Climate could affect the distribution through, for example, spatial habitat shifts. Harvesting could affect the distribution through impacting the demographic structure. If demographic structure is important, theory predicts increasing spawner size with migration distance. Here, we evaluate these hypotheses with modern data from a period (2000-2016) of increasing temperature and recovering stock structure. We first analyze economic data from the Norwegian fisheries to investigate geographical differences in size of spawning fish among spawning grounds, as well as interannual differences in mean latitude of spawning in relation to changes in temperature and demographic parameters. Second, we analyze genetically determined fish sampled at the spawning grounds to unambiguously separate between migratory NEA cod and potentially smaller sized coastal cod of local origin. Our results indicate smaller spawners farther away from the feeding grounds, hence not supporting the hypothesis that harvesting is a main driver for the contemporary spawning ground distribution. We find a positive correlation between annual mean spawning latitude and temperature. In conclusion, based on contemporary data, there is more support for climate compared to harvesting in shaping spawning ground distribution in this major fish stock in the North Atlantic Ocean.


Assuntos
Distribuição Animal , Mudança Climática , Pesqueiros , Gadus morhua/fisiologia , Reprodução , Animais , Oceano Atlântico , Pesqueiros/economia , Gadus morhua/genética , Noruega
3.
Mol Ecol ; 26(17): 4452-4466, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28626905

RESUMO

Adaptation to local conditions is a fundamental process in evolution; however, mechanisms maintaining local adaptation despite high gene flow are still poorly understood. Marine ecosystems provide a wide array of diverse habitats that frequently promote ecological adaptation even in species characterized by strong levels of gene flow. As one example, populations of the marine fish Atlantic cod (Gadus morhua) are highly connected due to immense dispersal capabilities but nevertheless show local adaptation in several key traits. By combining population genomic analyses based on 12K single nucleotide polymorphisms with larval dispersal patterns inferred using a biophysical ocean model, we show that Atlantic cod individuals residing in sheltered estuarine habitats of Scandinavian fjords mainly belong to offshore oceanic populations with considerable connectivity between these diverse ecosystems. Nevertheless, we also find evidence for discrete fjord populations that are genetically differentiated from offshore populations, indicative of local adaptation, the degree of which appears to be influenced by connectivity. Analyses of the genomic architecture reveal a significant overrepresentation of a large ~5 Mb chromosomal rearrangement in fjord cod, previously proposed to comprise genes critical for the survival at low salinities. This suggests that despite considerable connectivity with offshore populations, local adaptation to fjord environments may be enabled by suppression of recombination in the rearranged region. Our study provides new insights into the potential of local adaptation in high gene flow species within fine geographical scales and highlights the importance of genome architecture in analyses of ecological adaptation.


Assuntos
Adaptação Fisiológica/genética , Ecossistema , Gadus morhua/genética , Fluxo Gênico , Animais , Oceano Atlântico , Estuários , Rearranjo Gênico , Genoma , Polimorfismo de Nucleotídeo Único , Países Escandinavos e Nórdicos
4.
Nature ; 477(7363): 207-10, 2011 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-21832995

RESUMO

Atlantic cod (Gadus morhua) is a large, cold-adapted teleost that sustains long-standing commercial fisheries and incipient aquaculture. Here we present the genome sequence of Atlantic cod, showing evidence for complex thermal adaptations in its haemoglobin gene cluster and an unusual immune architecture compared to other sequenced vertebrates. The genome assembly was obtained exclusively by 454 sequencing of shotgun and paired-end libraries, and automated annotation identified 22,154 genes. The major histocompatibility complex (MHC) II is a conserved feature of the adaptive immune system of jawed vertebrates, but we show that Atlantic cod has lost the genes for MHC II, CD4 and invariant chain (Ii) that are essential for the function of this pathway. Nevertheless, Atlantic cod is not exceptionally susceptible to disease under natural conditions. We find a highly expanded number of MHC I genes and a unique composition of its Toll-like receptor (TLR) families. This indicates how the Atlantic cod immune system has evolved compensatory mechanisms in both adaptive and innate immunity in the absence of MHC II. These observations affect fundamental assumptions about the evolution of the adaptive immune system and its components in vertebrates.


Assuntos
Gadus morhua/genética , Gadus morhua/imunologia , Genoma/genética , Sistema Imunitário/imunologia , Imunidade/genética , Animais , Evolução Molecular , Genômica , Hemoglobinas/genética , Imunidade/imunologia , Complexo Principal de Histocompatibilidade/genética , Complexo Principal de Histocompatibilidade/imunologia , Masculino , Polimorfismo Genético/genética , Sintenia/genética , Receptores Toll-Like/genética
5.
Behav Genet ; 45(2): 236-44, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25577394

RESUMO

The spectral sensitivity of visual pigments in vertebrate eyes is optimized for specific light conditions. One of such pigments, rhodopsin (RH1), mediates dim-light vision. Amino acid replacements at tuning sites may alter spectral sensitivity, providing a mechanism to adapt to ambient light conditions and depth of habitat in fish. Here we present a first investigation of RH1 gene polymorphism among two ecotypes of Atlantic cod in Icelandic waters, which experience divergent light environments throughout the year due to alternative foraging behaviour. We identified one synonymous single nucleotide polymorphism (SNP) in the RH1 protein coding region and one in the 3' untranslated region (3'-UTR) that are strongly divergent between these two ecotypes. Moreover, these polymorphisms coincided with the well-known panthophysin (Pan I) polymorphism that differentiates coastal and frontal (migratory) populations of Atlantic cod. While the RH1 SNPs do not provide direct inference for a specific molecular mechanism, their association with this dim-sensitive pigment indicates the involvement of the visual system in local adaptation of Atlantic cod.


Assuntos
Gadus morhua/genética , Luz , Polimorfismo Genético , Rodopsina/genética , Regiões 3' não Traduzidas , Animais , Comportamento Animal , Evolução Molecular , Genética Populacional , Genótipo , Repetições de Microssatélites , Razão de Chances , Seleção Genética , Sinaptofisina/genética , Visão Ocular
6.
BMC Evol Biol ; 14: 1, 2014 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-24382122

RESUMO

BACKGROUND: Maize is the most produced crop in Sub-Saharan Africa, but yields are low and climate change is projected to further constrain smallholder production. The current efforts to breed and disseminate new high yielding and climate ready maize varieties are implemented through the formal seed system; the chain of public and private sector activities and institutions that produce and release certified seeds. These efforts are taking place in contexts currently dominated by informal seed systems; local and informal seed management and exchange channels with a long history of adapting crops to local conditions. We here present a case study of the genetic effects of both formal and informal seed management from the semi-arid zone in Tanzania. RESULTS: Two open pollinated varieties (OPVs), Staha and TMV1, first released by the formal seed system in the 1980s are cultivated on two-thirds of the maize fields among the surveyed households. Farmer-recycling of improved varieties and seed selection are common on-farm seed management practices. Drought tolerance and high yield are the most important characteristics reported as reason for cultivating the current varieties as well as the most important criteria for farmers' seed selection. Bayesian cluster analysis, PCA and FST analyses based on 131 SNPs clearly distinguish between the two OPVs, and despite considerable heterogeneity between and within seed lots, there is insignificant differentiation between breeder's seeds and commercial seeds in both OPVs. Genetic separation increases as the formal system varieties enter the informal system and both hybridization with unrelated varieties and directional selection probably play a role in the differentiation. Using a Bayesian association approach we identify three loci putatively under selection in the informal seed system. CONCLUSIONS: Our results suggest that the formal seed system in the study area distributes seed lots that are true to type. We suggest that hybridization and directional selection differentiate farmer recycled seed lots from the original varieties and potentially lead to beneficial creolization. Access to drought tolerant OPVs in combination with farmer seed selection is likely to enhance seed system security and farmers' adaptive capacity in the face of climate change.


Assuntos
Zea mays/genética , Agricultura , Mudança Climática , Sementes/genética , Sementes/crescimento & desenvolvimento , Tanzânia , Zea mays/crescimento & desenvolvimento
7.
BMC Evol Biol ; 14(1): 54, 2014 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-24655798

RESUMO

BACKGROUND: Functionality of the tetrameric hemoglobin molecule seems to be determined by a few amino acids located in key positions. Oxygen binding encompasses structural changes at the interfaces between the α1ß2 and α2ß1 dimers, but also subunit interactions are important for the oxygen binding affinity and stability. The latter packing contacts include the conserved Arg B12 interacting with Phe GH5, which is replaced by Leu and Tyr in the αA and αD chains, respectively, of birds and reptiles. RESULTS: Searching all known hemoglobins from a variety of gnathostome species (jawed vertebrates) revealed the almost invariant Arg B12 coded by the AGG triplet positioned at an exon-intron boundary. Rare substitutions of Arg B12 in the gnathostome ß globins were found in pig, tree shrew and scaled reptiles. Phe GH5 is also highly conserved in the ß globins, except for the Leu replacement in the ß1 globin of five marine gadoid species, gilthead seabream and the Comoran coelacanth, while Cys and Ile were found in burbot and yellow croaker, respectively. Atlantic cod ß1 globin showed a Leu/Met polymorphism at position GH5 dominated by the Met variant in northwest-Atlantic populations that was rarely found in northeast-Atlantic cod. Site-specific analyses identified six consensus codons under positive selection, including 122ß(GH5), indicating that the amino acid changes identified at this position may offer an adaptive advantage. In fact, computational mutation analysis showed that the replacement of Phe GH5 with Leu or Cys decreased the number of van der Waals contacts essentially in the deoxy form that probably causes a slight increase in the oxygen binding affinity. CONCLUSIONS: The almost invariant Arg B12 and the AGG codon seem to be important for the packing contacts and pre-mRNA processing, respectively, but the rare mutations identified might be beneficial. The Leu122ß1(GH5)Met and Met55ß1(D6)Val polymorphisms in Atlantic cod hemoglobin modify the intradimer contacts B12-GH5 and H2-D6, while amino acid replacements at these positions in avian hemoglobin seem to be evolutionary adaptive in air-breathing vertebrates. The results support the theory that adaptive changes in hemoglobin functions are caused by a few substitutions at key positions.


Assuntos
Substituição de Aminoácidos , Evolução Molecular , Peixes/genética , Hemoglobinas/genética , Animais , Análise Mutacional de DNA , Gadus morhua/genética , Hemoglobinas/química , Modelos Moleculares , Filogenia , Polimorfismo Genético , Multimerização Proteica , Precursores de RNA/genética , Seleção Genética , Vertebrados/genética
8.
PNAS Nexus ; 1(5): pgac211, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36712379

RESUMO

Pathogens can elicit high selective pressure on hosts, potentially altering genetic diversity over short evolutionary timescales. Intraspecific variation in immune response is observable as variable survivability from specific infections. The great gerbil (Rhombomys opimus) is a rodent plague host with a heterogenic but highly resistant phenotype. Here, we investigate the genomic basis for plague-resistant phenotypes by exposing wild-caught great gerbils to plague (Yersinia pestis). Whole genome sequencing of 10 survivors and 10 moribund individuals revealed a subset of genomic regions showing elevated differentiation. Gene ontology analysis of candidate genes in these regions demonstrated enrichment of genes directly involved in immune functions, cellular metabolism and the regulation of apoptosis as well as pathways involved in transcription, translation, and gene regulation. Transcriptomic analysis revealed that the early activated great gerbil immune response to plague consisted of classical components of the innate immune system. Our approach combining challenge experiments with transcriptomics and population level sequencing, provides new insight into the genetic background of plague-resistance and confirms its complex nature, most likely involving multiple genes and pathways of both the immune system and regulation of basic cellular functions.

9.
BMC Genomics ; 12: 615, 2011 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-22182215

RESUMO

BACKGROUND: The Atlantic salmon genome is in the process of returning to a diploid state after undergoing a whole genome duplication (WGD) event between 25 and100 million years ago. Existing data on the proportion of paralogous sequence variants (PSVs), multisite variants (MSVs) and other types of complex sequence variation suggest that the rediplodization phase is far from over. The aims of this study were to construct a high density linkage map for Atlantic salmon, to characterize the extent of rediploidization and to improve our understanding of genetic differences between sexes in this species. RESULTS: A linkage map for Atlantic salmon comprising 29 chromosomes and 5650 single nucleotide polymorphisms (SNPs) was constructed using genotyping data from 3297 fish belonging to 143 families. Of these, 2696 SNPs were generated from ESTs or other gene associated sequences. Homeologous chromosomal regions were identified through the mapping of duplicated SNPs and through the investigation of syntenic relationships between Atlantic salmon and the reference genome sequence of the threespine stickleback (Gasterosteus aculeatus). The sex-specific linkage maps spanned a total of 2402.3 cM in females and 1746.2 cM in males, highlighting a difference in sex specific recombination rate (1.38:1) which is much lower than previously reported in Atlantic salmon. The sexes, however, displayed striking differences in the distribution of recombination sites within linkage groups, with males showing recombination strongly localized to telomeres. CONCLUSION: The map presented here represents a valuable resource for addressing important questions of interest to evolution (the process of re-diploidization), aquaculture and salmonid life history biology and not least as a resource to aid the assembly of the forthcoming Atlantic salmon reference genome sequence.


Assuntos
Cromossomos , Ligação Genética , Polimorfismo de Nucleotídeo Único , Recombinação Genética , Salmão/genética , Fatores Sexuais , Animais , Feminino , Masculino
10.
BMC Med Genet ; 11: 144, 2010 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-20939869

RESUMO

BACKGROUND: The liver X receptors (LXR) α and ß regulate lipid and carbohydrate homeostasis and inflammation. Lxrß⁻/⁻ mice are glucose intolerant and at the same time lean. We aimed to assess the associations between single nucleotide polymorphisms (SNPs) in LXRß and risk of type 2 diabetes mellitus (T2DM), obesity and related traits in 3 separate cohort studies. METHODS: Twenty LXRß SNPs were identified by sequencing and genotyped in the HUNT2 adult nested case-control study for T2DM (n = 835 cases/1986 controls). Five tag-SNPs (rs17373080, rs2695121, rs56151148, rs2303044 and rs3219281), covering 99.3% of the entire common genetic variability of the LXRß gene were identified and genotyped in the French MONICA adult study (n = 2318) and the European adolescent HELENA cross-sectional study (n = 1144). In silico and in vitro functionality studies were performed. RESULTS: We identified suggestive or significant associations between rs17373080 and the risk of (i) T2DM in HUNT2 (OR = 0.82, p = 0.03), (ii) obesity in MONICA (OR = 1.26, p = 0.05) and (iii) overweight/obesity in HELENA (OR = 1.59, p = 0.002). An intron 4 SNP (rs28514894, a perfect proxy for rs17373080) could potentially create binding sites for hepatic nuclear factor 4 alpha (HNF4α) and nuclear factor 1 (NF1). The C allele of rs28514894 was associated with ~1.25-fold higher human LXRß basal promoter activity in vitro. However, no differences between alleles in terms of DNA binding and reporter gene transactivation by HNF4α or NF1 were observed. CONCLUSIONS: Our results suggest that rs17373080 in LXRß is associated with T2DM and obesity, maybe via altered LXRß expression.


Assuntos
Diabetes Mellitus Tipo 2/genética , Obesidade/genética , Receptores Nucleares Órfãos/genética , Adolescente , Adulto , Idoso , Alelos , Sítios de Ligação , Estudos de Coortes , Europa (Continente) , Feminino , França , Predisposição Genética para Doença , Genótipo , Fator 4 Nuclear de Hepatócito/metabolismo , Humanos , Íntrons , Receptores X do Fígado , Masculino , Pessoa de Meia-Idade , Fatores de Transcrição NFI/metabolismo , Noruega , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
11.
BMC Genomics ; 9: 223, 2008 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-18482444

RESUMO

BACKGROUND: The Atlantic salmon is a species of commercial and ecological significance. Like other salmonids, the species displays residual tetrasomy and a large difference in recombination rate between sexes. Linkage maps with full genome coverage, containing both type I and type II markers, are needed for progress in genomics. Furthermore, it is important to estimate levels of linkage disequilibrium (LD) in the species. In this study, we developed several hundred single nucleotide polymorphism (SNP) markers for the Atlantic salmon, and constructed male and female linkage maps containing SNP and microsatellite markers. We also investigated further the distribution of male and female recombination events across the genome, and estimated levels of LD between pairs of markers. RESULTS: The male map had 29 linkage groups and was 390 cM long. The female map had 30 linkage groups as was 1983 cM long. In total, the maps contained 138 microsatellite markers and 304 SNPs located within genes, most of which were successfully annotated. The ratio of male to female recombination events was either close to zero or very large, indicating that there is little overlap between regions in which male and female crossovers occur. The female map is likely to have close to full genome coverage, while the majority of male linkage groups probably lack markers in telomeric regions where male recombination events occur. Levels of r2 increased with decreasing inter-marker distance in a bimodal fashion; increasing slowly from approximately 60 cM, and more rapidly more from approximately 12 cM. Long-ranging LD may be consequence of recent admixture in the population, the population being a 'synthetic' breeding population with contributions from several distinct rivers. Levels of r2 dropped to half its maximum value (above baseline) within 15 cM, and were higher than 0.2 above baseline for unlinked markers ('useful LD') at inter-marker distances less than 5 cM. CONCLUSION: The linkage map presented here is an important resource for genetic, comparative, and physical mapping of the Atlantic salmon. The female map is likely to have a map coverage that is not far from complete, whereas the male map length is likely to be significantly shorter than the true map, due to suboptimal marker coverage in the apparently small physical regions where male crossovers occur. 'Useful LD' was found at inter-marker distances less than 5 cM.


Assuntos
Salmo salar/genética , Animais , Mapeamento Cromossômico , Etiquetas de Sequências Expressas , Feminino , Desequilíbrio de Ligação , Masculino , Polimorfismo de Nucleotídeo Único , Recombinação Genética , Caracteres Sexuais
12.
Bioinformatics ; 23(13): 1692-3, 2007 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-17463019

RESUMO

MOTIVATION: Single nucleotide polymorphism (SNP) detection exploiting redundancy in expressed sequence tag (EST) collections that arises from the presence of transcripts of the same gene from different individuals has been used to generate large collections of SNPs for many species. A second source of redundancy, namely that EST collections can contain multiple transcripts of the same gene from the same individual, can be exploited to distinguish true SNPs from sequencing error. In this article, we demonstrate with Atlantic salmon and pig EST collections that splitting the EST collection in two, detecting SNPs in both subsets, then accepting only cross-validated SNPs increases validation rates. RESULTS: In the pig data set, 676 cross-validated putative SNPs were detected in a collection of 160,689 ESTs. When validating a subset of these by genotyping on MassARRAY 85.1% of SNPs were polymorphic in successful assays. In the salmon data set, 856 cross-validated putative SNPs were detected in a collection of 243,674 ESTs. Validation by genotyping showed that 81.0% of the cross-validated putative SNPs were polymorphic in successful assays. AVAILABILITY: Cross-validated SNPs are available at dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/), ss69371838-ss69372575 for the salmon SNPs and ss69372587-ss69373226 for the pig SNPs.


Assuntos
Artefatos , Análise Mutacional de DNA/métodos , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA/métodos , Fatores de Transcrição/genética , Animais , Oceano Atlântico , Sequência de Bases , Bases de Dados Genéticas , Etiquetas de Sequências Expressas , Dados de Sequência Molecular , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Suínos
13.
BMC Genet ; 9: 18, 2008 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-18302786

RESUMO

BACKGROUND: The Atlantic cod (Gadus morhua) is a groundfish of great economic value in fisheries and an emerging species in aquaculture. Genetic markers are needed to identify wild stocks in order to ensure sustainable management, and for marker-assisted selection and pedigree determination in aquaculture. Here, we report on the development and evaluation of a large number of Single Nucleotide Polymorphism (SNP) markers from the alignment of Expressed Sequence Tag (EST) sequences in Atlantic cod. We also present basic population parameters of the SNPs in samples of North-East Arctic cod and Norwegian coastal cod obtained from three different localities, and test for SNPs that may have been targeted by natural selection. RESULTS: A total of 17,056 EST sequences were used to find 724 putative SNPs, from which 318 segregating SNPs were isolated. The SNPs were tested on Atlantic cod from four different sites, comprising both North-East Arctic cod (NEAC) and Norwegian coastal cod (NCC). The average heterozygosity of the SNPs was 0.25 and the average minor allele frequency was 0.18. FST values were highly variable, with the majority of SNPs displaying very little differentiation while others had FST values as high as 0.83. The FST values of 29 SNPs were found to be larger than expected under a strictly neutral model, suggesting that these loci are, or have been, influenced by natural selection. For the majority of these outlier SNPs, allele frequencies in a northern sample of NCC were intermediate between allele frequencies in a southern sample of NCC and a sample of NEAC, indicating a cline in allele frequencies similar to that found at the Pantophysin I locus. CONCLUSION: The SNP markers presented here are powerful tools for future genetics work related to management and aquaculture. In particular, some SNPs exhibiting high levels of population divergence have potential to significantly enhance studies on the population structure of Atlantic cod.


Assuntos
Gadus morhua/genética , Marcadores Genéticos/genética , Polimorfismo de Nucleotídeo Único/genética , Seleção Genética , Animais , Análise por Conglomerados , Etiquetas de Sequências Expressas , Frequência do Gene , Genética Populacional , Genótipo , Noruega
14.
Genetics ; 174(1): 455-64, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16849606

RESUMO

In goat milk the most abundant proteins are the casein genes, CSN1S1, CSN2, CSN1S2, and CSN3. Mutations have been identified within these genes affecting the level of gene expression, and effects on milk production traits have been reported. The aim of this study was to detect polymorphisms (SNPs) in the casein genes of Norwegian goats, resolve haplotype structures within the loci, and assess the effect of these haplotypes on milk production traits. Four hundred thirty-six Norwegian bucks were genotyped for 39 polymorphic sites across the four loci. The numbers of unique haplotypes present in each locus were 10, 6, 4, and 8 for CSN1S1, CSN2, CSN1S2, and CSN3, respectively. The effects of the CSN1S1 haplotypes on protein percentage and fat kilograms were significant, as were the effects of CSN3 haplotypes on fat percentage and protein percentage. A deletion in exon 12 of CSN1S1, unique to the Norwegian goat population, explained the effects of CSN1S1 haplotypes on fat kilograms, but not protein percentage. Investigation of linkage disequilibrium between all possible pairs of SNPs revealed higher levels of linkage disequilbrium for SNP pairs within casein loci than for SNP pairs between casein loci, likely reflecting low levels of intragenic recombination. Further, there was evidence for a site of preferential recombination between CSN2 and CSN1S2. The value of the haplotypes for haplotype-assisted selection (HAS) is discussed.


Assuntos
Caseínas/genética , Cabras/genética , Haplótipos , Lactação/genética , Recombinação Genética , Animais , Feminino , Desequilíbrio de Ligação , Glândulas Mamárias Animais/citologia , Leite/metabolismo , Proteínas do Leite/genética , Modelos Genéticos , Polimorfismo de Nucleotídeo Único
15.
BMC Genet ; 8: 32, 2007 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-17584938

RESUMO

BACKGROUND: Our group has previously identified a quantitative trait locus (QTL) affecting fat and protein percentages on bovine chromosome 6, and refined the QTL position to a 420-kb interval containing six genes. Studies performed in other cattle populations have proposed polymorphisms in two different genes (ABCG2 and OPN) as the underlying functional QTL nucleotide. Due to these conflicting results, we have included these QTNs, together with a large collection of new SNPs produced from PCR sequencing, in a dense marker map spanning the QTL region, and reanalyzed the data using a combined linkage and linkage disequilibrium approach. RESULTS: Our results clearly exclude the OPN SNP (OPN_3907) as causal site for the QTL. Among 91 SNPs included in the study, the ABCG2 SNP (ABCG2_49) is clearly the best QTN candidate. The analyses revealed the presence of only one QTL for the percentage traits in the tested region. This QTL was completely removed by correcting the analysis for ABCG2_49. Concordance between the sires' marker genotypes and segregation status for the QTL was found for ABCG2_49 only. The C allele of ABCG2_49 is found in a marker haplotype that has an extremely negative effect on fat and protein percentages and positive effect on milk yield. Of the 91 SNPs, ABCG2_49 was the only marker in perfect linkage disequilibrium with the QTL. CONCLUSION: Based on our results, OPN_3907 can be excluded as the polymorphism underlying the QTL. The results of this and other papers strongly suggest the [A/C] mutation in ABCG2_49 as the causal mutation, although the possibility that ABCG2_49 is only a marker in perfect LD with the true mutation can not be completely ruled out.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Bovinos/genética , Leite/química , Locos de Características Quantitativas , Animais , Gorduras/química , Feminino , Marcadores Genéticos , Genótipo , Funções Verossimilhança , Proteínas do Leite/química , Mapeamento Físico do Cromossomo , Polimorfismo de Nucleotídeo Único
16.
Genetics ; 169(1): 275-83, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15466433

RESUMO

A QTL affecting milk production traits was previously mapped to an interval of 7.5 cM on chromosome 6 in Norwegian dairy cattle. This article aimed to refine this position by increasing the map density in the region by a set of single-nucleotide polymorphisms and analyzing the data with a combined linkage and linkage disequilibrium approach. Through a series of single- and multitrait and single- and multipoint analyses, the QTL was positioned to an interval surrounded by the genes ABCG2 and LAP3. As no recombinations were detected in this interval, physical mapping was required for further refining. By using radiation hybrid mapping as well as BAC clones, the bovine and human comparative maps in the region are resolved, and the QTL is mapped within a distance of 420 kb.


Assuntos
Bovinos/genética , Mapeamento Cromossômico , Ligação Genética/genética , Lactação/genética , Desequilíbrio de Ligação/genética , Leite/metabolismo , Locos de Características Quantitativas/genética , Animais , Cromossomos Artificiais Bacterianos , Feminino , Haplótipos , Masculino , Leite/química , Noruega
17.
Sci Rep ; 6: 23246, 2016 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-26983361

RESUMO

Identification of genome-wide patterns of divergence provides insight on how genomes are influenced by selection and can reveal the potential for local adaptation in spatially structured populations. In Atlantic cod - historically a major marine resource - Northeast-Arctic- and Norwegian coastal cod are recognized by fundamental differences in migratory and non-migratory behavior, respectively. However, the genomic architecture underlying such behavioral ecotypes is unclear. Here, we have analyzed more than 8.000 polymorphic SNPs distributed throughout all 23 linkage groups and show that loci putatively under selection are localized within three distinct genomic regions, each of several megabases long, covering approximately 4% of the Atlantic cod genome. These regions likely represent genomic inversions. The frequency of these distinct regions differ markedly between the ecotypes, spawning in the vicinity of each other, which contrasts with the low level of divergence in the rest of the genome. The observed patterns strongly suggest that these chromosomal rearrangements are instrumental in local adaptation and separation of Atlantic cod populations, leaving footprints of large genomic regions under selection. Our findings demonstrate the power of using genomic information in further understanding the population dynamics and defining management units in one of the world's most economically important marine resources.


Assuntos
Gadus morhua/genética , Rearranjo Gênico/fisiologia , Genoma , Migração Animal , Animais , Teorema de Bayes , Ecótipo , Variação Genética , Genótipo , Heterozigoto , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único
18.
Genome Biol Evol ; 8(4): 1012-22, 2016 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-26983822

RESUMO

In several species genetic differentiation across environmental gradients or between geographically separate populations has been reported to center at "genomic islands of divergence," resulting in heterogeneous differentiation patterns across genomes. Here, genomic regions of elevated divergence were observed on three chromosomes of the highly mobile fish Atlantic cod (Gadus morhua) within geographically fine-scaled coastal areas. The "genomic islands" extended at least 5, 9.5, and 13 megabases on linkage groups 2, 7, and 12, respectively, and coincided with large blocks of linkage disequilibrium. For each of these three chromosomes, pairs of segregating, highly divergent alleles were identified, with little or no gene exchange between them. These patterns of recombination and divergence mirror genomic signatures previously described for large polymorphic inversions, which have been shown to repress recombination across extensive chromosomal segments. The lack of genetic exchange permits divergence between noninverted and inverted chromosomes in spite of gene flow. For the rearrangements on linkage groups 2 and 12, allelic frequency shifts between coastal and oceanic environments suggest a role in ecological adaptation, in agreement with recently reported associations between molecular variation within these genomic regions and temperature, oxygen, and salinity levels. Elevated genetic differentiation in these genomic regions has previously been described on both sides of the Atlantic Ocean, and we therefore suggest that these polymorphisms are involved in adaptive divergence across the species distributional range.


Assuntos
Inversão Cromossômica , Gadus morhua/genética , Polimorfismo de Nucleotídeo Único , Adaptação Fisiológica , Animais , Cromossomos/genética , Gadus morhua/fisiologia , Fluxo Gênico , Genoma , Desequilíbrio de Ligação , Metagenômica
19.
Genome Biol Evol ; 7(6): 1644-63, 2015 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-25994933

RESUMO

How genomic selection enables species to adapt to divergent environments is a fundamental question in ecology and evolution. We investigated the genomic signatures of local adaptation in Atlantic cod (Gadus morhua L.) along a natural salinity gradient, ranging from 35‰ in the North Sea to 7‰ within the Baltic Sea. By utilizing a 12 K SNPchip, we simultaneously assessed neutral and adaptive genetic divergence across the Atlantic cod genome. Combining outlier analyses with a landscape genomic approach, we identified a set of directionally selected loci that are strongly correlated with habitat differences in salinity, oxygen, and temperature. Our results show that discrete regions within the Atlantic cod genome are subject to directional selection and associated with adaptation to the local environmental conditions in the Baltic- and the North Sea, indicating divergence hitchhiking and the presence of genomic islands of divergence. We report a suite of outlier single nucleotide polymorphisms within or closely located to genes associated with osmoregulation, as well as genes known to play important roles in the hydration and development of oocytes. These genes are likely to have key functions within a general osmoregulatory framework and are important for the survival of eggs and larvae, contributing to the buildup of reproductive isolation between the low-salinity adapted Baltic cod and the adjacent cod populations. Hence, our data suggest that adaptive responses to the environmental conditions in the Baltic Sea may contribute to a strong and effective reproductive barrier, and that Baltic cod can be viewed as an example of ongoing speciation.


Assuntos
Adaptação Fisiológica/genética , Gadus morhua/genética , Polimorfismo de Nucleotídeo Único , Salinidade , Seleção Genética , Animais , Genes , Genoma , Genômica , Desequilíbrio de Ligação
20.
PLoS One ; 9(9): e106380, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25259573

RESUMO

Hybrid zones provide unprecedented opportunity for the study of the evolution of reproductive isolation, and the extent of hybridization across individuals and genomes can illuminate the degree of isolation. We examine patterns of interchromosomal linkage disequilibrium (ILD) and the presence of hybridization in Atlantic cod, Gadus morhua, in previously identified hybrid zones in the North Atlantic. Here, previously identified clinal loci were mapped to the cod genome with most (∼70%) occurring in or associated with (<5 kb) coding regions representing a diverse array of possible functions and pathways. Despite the observation that clinal loci were distributed across three linkage groups, elevated ILD was observed among all groups of clinal loci and strongest in comparisons involving a region of low recombination along linkage group 7. Evidence of ILD supports a hypothesis of divergence hitchhiking transitioning to genome hitchhiking consistent with reproductive isolation. This hypothesis is supported by Bayesian characterization of hybrid classes present and we find evidence of common F1 hybrids in several regions consistent with frequent interbreeding, yet little evidence of F2 or backcrossed individuals. This work suggests that significant barriers to hybridization and introgression exist among these co-occurring groups of cod either through strong selection against hybrid individuals, or genetic incompatibility and intrinsic barriers to hybridization. In either case, the presence of strong clinal trends, and little gene flow despite extensive hybridization supports a hypothesis of reproductive isolation and cryptic speciation in Atlantic cod. Further work is required to test the degree and nature of reproductive isolation in this species.


Assuntos
Gadus morhua/genética , Hibridização Genética , Desequilíbrio de Ligação , Animais , Teorema de Bayes , Cromossomos , Frequência do Gene , Genética Populacional , Genoma , Polimorfismo de Nucleotídeo Único , Isolamento Reprodutivo
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