RESUMEN
MicroRNAs are endogenous non-protein-coding RNA molecules that regulate post-transcriptional gene expression. The majority of human miRNAs are brain-expressed and chromosome X is enriched in miRNA genes. We analyzed the genomic regions of 12 brain-expressed pre-miRNAs located on chromosome X coding for 18 mature miRNAs, aiming to investigate the involvement of miRNA sequence variants on X-linked intellectual disability (XLID). Genomic DNA samples from 135 unrelated Brazilian males with intellectual disability, suggestive of X-linked inheritance, were amplified through polymerase chain reaction and sequenced by Sanger sequencing. Although no sequence variations have been identified, suggesting an intense selective pressure, further computational analysis evidenced that eight mature miRNAs (miR-221-3p/222-3p, miR-223-3p, miR-361-5p, miR-362-5p, miR-504-5p.1, miR-505-3p.1, and miR-505-3p.2) act as critical regulators of X-linked and autosomal ID genes in a fully connected network. Enrichment approaches identify transcription regulation, nervous system development, and regulation of cell proliferation as the main common biological processes among the target ID genes. Besides, a clustered chromosomal coverage of the imputed miRNAs target genes and related regulators was found on X chromosome. Considering the role of miRNAs as fine-tuning regulators of gene expression, a systematic analysis of miRNAs' expression could uncover part of the genetic landscape subjacent to ID, being urgently necessary in patients with this condition, particularly XLID.
Asunto(s)
Encéfalo/metabolismo , Redes Reguladoras de Genes , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Discapacidad Intelectual/genética , MicroARNs/genética , Adolescente , Adulto , Niño , Preescolar , Cromosomas Humanos X/genética , Humanos , Masculino , MicroARNs/metabolismo , Polimorfismo GenéticoRESUMEN
The pink shrimp, Farfantepenaeus subtilis, actually comprises two cryptic species confused under a single name. Despite morphological and molecular evidences accumulated since 1967, the new species confused with F. subtilis has never been formally described. In this paper, Farfantepenaeus isabelae sp. nov., is described and compared to its close relatives, F. brasiliensis, F. notialis, F. paulensis and F. subtilis s. str..
Asunto(s)
Penaeidae/clasificación , Distribución Animal , Animales , Femenino , Geografía , Masculino , Penaeidae/anatomía & histología , Penaeidae/genética , Filogenia , Análisis de Secuencia de ADNRESUMEN
Penaeid shrimps are important resources for worldwide fisheries and aquaculture. In the Southwest Atlantic, Farfantepenaeus brasiliensis, F. paulensis, F. subtilis, Farfantepenaeus sp. and Litopenaeus schmitti are among the most important commercially exploited species. Despite their high commercial value, there is little information available on the different aspects of their biology or genetics and almost no data on their stock structure. We used allozymes to estimate variability levels and population genetic structure of F. brasiliensis, F. paulensis, L. schmitti and the recently detected species Farfantepenaeus sp. along as much as 4,000 km of Brazilian coastline. No population heterogeneity was detected in F. brasiliensis or L. schmitti along the studied area. In contrast, F ST values found for Farfantepenaeus sp. and F. paulensis indicate that the populations of those two species are genetically structured, comprising different fishery stocks. The largest genetic differences in F. paulensis were found between Lagoa dos Patos (South) and the two populations from Southeast Brazil. In Farfantepenaeus sp., significant differences were detected between the population from Recife and those from Fortaleza and Ilhéus.