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1.
Mol Genet Genomics ; 295(5): 1239-1252, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32529263

RESUMO

The genetic mechanisms underlying cutaneous melanoma onset and progression need to be further understood to improve patients' care. Several studies have focused on the genetic determinism of melanoma development in the MeLiM pig, a biomedical model of cutaneous melanoma. The objective of this study was to better describe the influence of a particular genomic region on melanoma progression in the MeliM model. Indeed, a large region of the Sus scrofa chromosome 1 has been identified by linkage and association analyses, but the causal mechanisms have remained elusive. To deepen the analysis of this candidate region, a dedicated SNP panel was used to fine map the locus, downsizing the interval to less than 2 Mb, in a genomic region located within a large gene desert. Transcription from this locus was addressed using a tiling array strategy and further validated by RT-PCR in a large panel of tissues. Overall, the gene desert showed an extensive transcriptional landscape, notably dominated by repeated element transcription in tumor and fetal tissues. The transcription of LINE-1 and PERVs has been confirmed in skin and tumor samples from MeLiM pigs. In conclusion, although this study still does not identify a candidate mutation for melanoma occurrence or progression, it highlights a potential role of repeated element transcriptional activity in the MeLiM model.


Assuntos
Cromossomos de Mamíferos/genética , Perfilação da Expressão Gênica/veterinária , Elementos Nucleotídeos Longos e Dispersos , Melanoma/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Cutâneas/genética , Animais , Mapeamento Cromossômico , Modelos Animais de Doenças , Progressão da Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Sus scrofa , Suínos , Melanoma Maligno Cutâneo
2.
J Evol Biol ; 27(3): 508-17, 2014 03.
Artigo em Inglês | MEDLINE | ID: mdl-24444045

RESUMO

The evolutionary trajectories associated with demographic, genetic and spatial disequilibrium have become an issue of growing interest in population biology. Invasive species provide unique opportunities to explore the impact of recent range expansion on life-history traits, making it possible to test for a spatial arrangement of dispersal abilities along the expanding range, in particular. We carried out controlled experiments in laboratory conditions to test the hypothesis of an increase in dispersal capacity with range expansion in Harmonia axyridis, a ladybird that has been invading Europe since 2001. We found a marked increase in the flight speed of the insects from the core to the front of the invasion range in two independent sampling transects. By contrast, we found that two other traits associated with dispersal (endurance and motivation to fly off) did not follow the same spatial gradient. Our results provide a striking illustration of the way in which predictable directional genetic changes may occur rapidly for some traits associated with dispersal during biological invasions. We discuss the consequences of our results for invasion dynamics and the evolutionary outcomes of spatially expanding populations.


Assuntos
Besouros/fisiologia , Espécies Introduzidas , Animais , Besouros/genética , Feminino , Voo Animal , Masculino
3.
Anim Genet ; 45(3): 445-8, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24628300

RESUMO

KIT mutations have been detected in different cancer subtypes, including melanoma. The gene also has been extensively studied in farm animals for its prominent role in coat color. The present work aimed at detecting KIT variants in a porcine model of cutaneous melanoma, the melanoblastoma-bearing Libechov Minipig (MeLiM). By sequencing exons and intron borders, 36 SNPs and one indel were identified. Of 10 coding SNPs, three were non-synonymous mutations, likely to affect the protein conformation. A promising variant, located in exon 19 (p.Val870Ala), was genotyped in a MeLiM × Duroc cross, and an association analysis was conducted on several melanoma-related traits. This variant showed a significant association with melanoma development, tumor ulceration and cutaneous invasion. In conclusion, although the KIT gene would not be a major causal gene for melanoma development in pig, its genetic variation could be influencing this trait.


Assuntos
Melanoma/genética , Polimorfismo de Nucleotídeo Único , Proteínas Proto-Oncogênicas c-kit/genética , Neoplasias Cutâneas/genética , Suínos/genética , Animais , Suscetibilidade a Doenças/patologia , Suscetibilidade a Doenças/fisiopatologia , Melanoma/patologia , Melanoma/fisiopatologia , Proteínas Proto-Oncogênicas c-kit/metabolismo , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/fisiopatologia , Porco Miniatura
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