RESUMO
Oocyan or blue/green eggshell colour is an autosomal dominant trait found in native chickens (Mapuche fowl) of Chile and in some of their descendants in European and North American modern breeds. We report here the identification of an endogenous avian retroviral (EAV-HP) insertion in oocyan Mapuche fowl and European breeds. Sequencing data reveals 100% retroviral identity between the Mapuche and European insertions. Quantitative real-time PCR analysis of European oocyan chicken indicates over-expression of the SLCO1B3 gene (P<0.05) in the shell gland and oviduct. Predicted transcription factor binding sites in the long terminal repeats (LTR) indicate AhR/Ar, a modulator of oestrogen, as a possible promoter/enhancer leading to reproductive tissue-specific over-expression of the SLCO1B3 gene. Analysis of all jungle fowl species Gallus sp. supports the retroviral insertion to be a post-domestication event, while identical LTR sequences within domestic chickens are in agreement with a recent de novo mutation.
Assuntos
Proteínas Aviárias/genética , Galinhas/virologia , Casca de Ovo/metabolismo , Retrovirus Endógenos/genética , Transportadores de Ânions Orgânicos Sódio-Independentes/genética , Pigmentação/genética , Animais , Proteínas Aviárias/metabolismo , Sequência de Bases , Sítios de Ligação , Chile , Mapeamento Cromossômico , Feminino , Regulação da Expressão Gênica , Homozigoto , Modelos Genéticos , Dados de Sequência Molecular , Mutação , Transportadores de Ânions Orgânicos Sódio-Independentes/metabolismo , Fenótipo , Filogenia , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Sequências Repetidas TerminaisRESUMO
Background: Short interspersed nuclear elements (SINEs) are transposable elements which are transcribed by RNA polymerase III and widespread in mammalian genomes. Can-SINE is a family of SINE sequences specific to carnivores, predominant in their genomes and present in high copy numbers. The aim of this study was to characterize sequences of Can-SINEs integrated into sequences of endogenous retroviruses (ERVs) from Brazilian wild cats Puma concolor and Leopardus geoffroyi. Additionally, these sequences are considered from some perspectives of their evolution. Material, Methods and Results: By using PCR and sequencing to screen for ERVs within the genomes of L. geoffroyi and P. concolor, two new ERV sequences were amplified with an insertion around 220 nucleotides long, similar to published carnivore SINEs. The sequences were further identified and characterized using a combination of BLAST, BLAT searches and phylogenetic analyses. The results showed that SINE sequences integrated into the ERV from P. concolor (SINE_Pco) and L. geoffroyi (SINE_Lg) are lysine-tRNA derived. These sequences presented a typical RNA polymerase III-specific internal promoter sequence followed by a microsatellite region (TC)n and by an A/T-rich tail with the polyadenylation signal AATAAA. BLAST searches using the whole sequence of L. geoffroyi clone as query (ERV plus SINE) detected two sequences which were highly similar to the cougar (P. concolor) and the domestic cat. However, the SINE from Leopardus geoffroyi is not present in these related sequences. On the other hand, during searches using the whole sequence of the P. concolor clone as query, we found the same SINE insertion in a very similar ERV from domestic cat. All insertions occurred in the RT domain, but SINE_Lg was integrated in a distinct site when compared to SINE_Pco. Another interesting difference between these SINE sequences was that the statistics reported in BLAST searches recovered a much higher number of hits from the domestic cat genome using SINE_Lg as seed than in searches for sequences related to SINE_Pco. The phylogenetic tree based on the SINE fragment grouped these new SINE sequences with Can-SINEs from felids. Within this major clade SINE_Lg and SINE_Pco are related to different lineages of felids Can-SINEs. Discussion: In this study we showed that two different sequences from felid endogenous retrovirus harbor Can-SINE sequences. These insertions are not surprising taking account that ~11% of domestic cat genome is composed of SINE sequences and they are ubiquitous in felid genomes. Furthermore, the insertions of SINEs into the ERV sequences reported here are not unique events. However, they are curious insertions representing genomic fossils and a little piece of felid history. Based on the results of the phylogenetic analyses and position of the integration sites, we suggest that SINE_Lg and SINE_Pco represent independent integration events originated by derived copies from different progenitors. We hypothesized that SINE_Lg is a "young" integration due to the absence of highly similar ERVs from Puma concolor and Felis catus. This lineage may be recently active in felid genomes given that we found very similar MegaBLAST hits at EST database from domestic cat. Instead, SINE_Pco seems to be "old", sharing an identical insertion site to ERVs from domestic cat and its lineage could be inactive in felids considering that any MegaBLAST hits resulted from EST database searches. The latter suggests an integration event in an ancestor species at least 6.7 million years ago, which represents the split between puma and domestic cat lineages.
Assuntos
Animais , Retrovirus Endógenos , Elementos Nucleotídeos Curtos e Dispersos/genética , Felis/genética , Puma/genéticaRESUMO
Background: Short interspersed nuclear elements (SINEs) are transposable elements which are transcribed by RNA polymerase III and widespread in mammalian genomes. Can-SINE is a family of SINE sequences specific to carnivores, predominant in their genomes and present in high copy numbers. The aim of this study was to characterize sequences of Can-SINEs integrated into sequences of endogenous retroviruses (ERVs) from Brazilian wild cats Puma concolor and Leopardus geoffroyi. Additionally, these sequences are considered from some perspectives of their evolution. Material, Methods and Results: By using PCR and sequencing to screen for ERVs within the genomes of L. geoffroyi and P. concolor, two new ERV sequences were amplified with an insertion around 220 nucleotides long, similar to published carnivore SINEs. The sequences were further identified and characterized using a combination of BLAST, BLAT searches and phylogenetic analyses. The results showed that SINE sequences integrated into the ERV from P. concolor (SINE_Pco) and L. geoffroyi (SINE_Lg) are lysine-tRNA derived. These sequences presented a typical RNA polymerase III-specific internal promoter sequence followed by a microsatellite region (TC)n and by an A/T-rich tail with the polyadenylation signal AATAAA. BLAST searches using the whole sequence of L. geoffroyi clone as query (ERV plus SINE) detected two sequences which
Background: Short interspersed nuclear elements (SINEs) are transposable elements which are transcribed by RNA polymerase III and widespread in mammalian genomes. Can-SINE is a family of SINE sequences specific to carnivores, predominant in their genomes and present in high copy numbers. The aim of this study was to characterize sequences of Can-SINEs integrated into sequences of endogenous retroviruses (ERVs) from Brazilian wild cats Puma concolor and Leopardus geoffroyi. Additionally, these sequences are considered from some perspectives of their evolution. Material, Methods and Results: By using PCR and sequencing to screen for ERVs within the genomes of L. geoffroyi and P. concolor, two new ERV sequences were amplified with an insertion around 220 nucleotides long, similar to published carnivore SINEs. The sequences were further identified and characterized using a combination of BLAST, BLAT searches and phylogenetic analyses. The results showed that SINE sequences integrated into the ERV from P. concolor (SINE_Pco) and L. geoffroyi (SINE_Lg) are lysine-tRNA derived. These sequences presented a typical RNA polymerase III-specific internal promoter sequence followed by a microsatellite region (TC)n and by an A/T-rich tail with the polyadenylation signal AATAAA. BLAST searches using the whole sequence of L. geoffroyi clone as query (ERV plus SINE) detected two sequences which
RESUMO
Background: Short interspersed nuclear elements (SINEs) are transposable elements which are transcribed by RNA polymerase III and widespread in mammalian genomes. Can-SINE is a family of SINE sequences specific to carnivores, predominant in their genomes and present in high copy numbers. The aim of this study was to characterize sequences of Can-SINEs integrated into sequences of endogenous retroviruses (ERVs) from Brazilian wild cats Puma concolor and Leopardus geoffroyi. Additionally, these sequences are considered from some perspectives of their evolution. Material, Methods and Results: By using PCR and sequencing to screen for ERVs within the genomes of L. geoffroyi and P. concolor, two new ERV sequences were amplified with an insertion around 220 nucleotides long, similar to published carnivore SINEs. The sequences were further identified and characterized using a combination of BLAST, BLAT searches and phylogenetic analyses. The results showed that SINE sequences integrated into the ERV from P. concolor (SINE_Pco) and L. geoffroyi (SINE_Lg) are lysine-tRNA derived. These sequences presented a typical RNA polymerase III-specific internal promoter sequence followed by a microsatellite region (TC)n and by an A/T-rich tail with the polyadenylation signal AATAAA. BLAST searches using the whole sequence of L. geoffroyi clone as query (ERV plus SINE) detected two sequences which
Background: Short interspersed nuclear elements (SINEs) are transposable elements which are transcribed by RNA polymerase III and widespread in mammalian genomes. Can-SINE is a family of SINE sequences specific to carnivores, predominant in their genomes and present in high copy numbers. The aim of this study was to characterize sequences of Can-SINEs integrated into sequences of endogenous retroviruses (ERVs) from Brazilian wild cats Puma concolor and Leopardus geoffroyi. Additionally, these sequences are considered from some perspectives of their evolution. Material, Methods and Results: By using PCR and sequencing to screen for ERVs within the genomes of L. geoffroyi and P. concolor, two new ERV sequences were amplified with an insertion around 220 nucleotides long, similar to published carnivore SINEs. The sequences were further identified and characterized using a combination of BLAST, BLAT searches and phylogenetic analyses. The results showed that SINE sequences integrated into the ERV from P. concolor (SINE_Pco) and L. geoffroyi (SINE_Lg) are lysine-tRNA derived. These sequences presented a typical RNA polymerase III-specific internal promoter sequence followed by a microsatellite region (TC)n and by an A/T-rich tail with the polyadenylation signal AATAAA. BLAST searches using the whole sequence of L. geoffroyi clone as query (ERV plus SINE) detected two sequences which
RESUMO
European chickens were introduced into the American continents by the Spanish after their arrival in the 15th century. However, there is ongoing debate as to the presence of pre-Columbian chickens among Amerindians in South America, particularly in relation to Chilean breeds such as the Araucana and Passion Fowl. To understand the origin of these populations, we have generated partial mitochondrial DNA control region sequences from 41 native Chilean specimens and compared them with a previously generated database of approximately 1,000 domestic chicken sequences from across the world as well as published Chilean and Polynesian ancient DNA sequences. The modern Chilean sequences cluster closely with haplotypes predominantly distributed among European, Indian subcontinental, and Southeast Asian chickens, consistent with a European genetic origin. A published, apparently pre-Columbian, Chilean specimen and six pre-European Polynesian specimens also cluster with the same European/Indian subcontinental/Southeast Asian sequences, providing no support for a Polynesian introduction of chickens to South America. In contrast, sequences from two archaeological sites on Easter Island group with an uncommon haplogroup from Indonesia, Japan, and the Philippines [corrected] and may represent a genetic signature of an early Polynesian dispersal. Modeling of the potential marine carbon contribution to the Chilean archaeological specimen casts further doubt on claims for pre-Columbian chickens, and definitive proof will require further analyses of ancient DNA sequences and radiocarbon and stable isotope data from archaeological excavations within both Chile and Polynesia.
Assuntos
Galinhas/genética , DNA Mitocondrial/genética , Variação Genética , Filogenia , Animais , Ásia , Sequência de Bases , Chile , Análise por Conglomerados , Europa (Continente) , Haplótipos/genética , Dados de Sequência Molecular , Polimorfismo Genético , Polinésia , Análise de Sequência de DNARESUMO
Se reporta el caso de una mujer de 61 años de edad, con antecedente de tuberculosis pélvica en la adolescencia, que se presentó con insuficiencia renal aguda y dolor lumbar y a quien se le diagnosticó fibrosis retroperitoneal. Se revisa la bibliografía reciente y los principales aspectos de esta enfermedad. Descriptores: Fibrosis, retroperitoneal, insuficiencia renal, tuberculosis pélvica.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Prednisona , Fibrose Retroperitoneal , Costa RicaRESUMO
Se reporta un caso de prostatitis tuberculosa, diagnosticado en el abiopsia de una resección transuretral, con cultivos de orina negativos por TB y sin evidencia sistémica de tuberculosis, el cual recibió tratamiento auntifímico con buen resultado. Se revisa el tema de esta entidad rara.
Assuntos
Masculino , Humanos , Pessoa de Meia-Idade , Prostatite , Tuberculose , Urina , Costa RicaRESUMO
Se reporta un caso muy complicado en el campo de la Urología, inicialmente con una fístula ureterovaginal con hidronefrosis proximal izquierda después de una histerectomía simple abdominal que se trató con una transureteroureterostomía que a su vez se complicó con una peritonitis purulenta por presencia de una fístula urinaria hacia el peritoneo y que terminó con una vejiga defuncionalizada con la orina derivada a piel con una ureterostomía cutánea izquierda de riñón único y que también se complicó con un piocisto que fue tratado con una cistectomía simple efecutada con esta nueva técnica descrita por Neulander de dividir la vejiga en dos mitades en forma exitosa y la paciente sobrevivió a múltiples complicaciones urológicas conservando una función renal normal.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Cistectomia , Doenças Urológicas/cirurgia , Costa RicaRESUMO
Diversas estrategias de citogenética convencional y genética molecular son útiles en el análisis de anomalías cromosómicas y secuencias de Acido Desoxirribonucléico (ADN); sin embargo, existen limitaciones para identificar inequívocamente muchas de estas anomalías y aislar pequeños fragmentos de ADN de interés. A partir del desarrollo de la microtecnología, varios grupos de investigación utilizaron la microdisección sobre pequeños preparados metafásicos de especies animales y vegetales, como una estrategia para acceder a regiones cromosómicas y cortar fragmentos de ADN, amplificarlos por reacción en cadena de la polimerasas y utilizar los productos en la elaboración de sondas, clonación de vectores o análisis molecular directo. Esta herramienta junto a la hibridización in situ fluorescente y otras técnicas, han sido útiles en la caracterización completa de anomalías cromosómicas en diversos tipos de cáncer y en el diagnóstico citogenético prenatal y postnatal. Así mismo ha facilitado el aislamiento, estudio molecular y localización cromosómica de secuencias ADN polimórficas, repetitivas, amplificadas, únicas y/o que transcriben, permitiendo la construcción de bibliotecas genéticas compuestas de clones con insertos de ADN humano, relacionadas con un gran número de enfermedades genéticas. La microdisección de cromosomas es un método rápido, directo y muy útil en la investigación y diagnóstico citogénico y molecular de embarazos, cáncer y/o enfermedades humanas, contribuyendo al desarrollo de la genética clínica y al Proyecto Genoma Humano