Using RNA-Seq SNP data to reveal potential causal mutations related to pig production traits and RNA editing.

RNA-Seq technology is widely used in quantitative gene expression studies and identification of non-annotated transcripts. However this technology also can be used for polymorphism detection and RNA editing in transcribed regions in an efficient and cost-effective way. This study used SNP data from an RNA-Seq assay to identify genes and mutations underlying production trait variations in an experimental pig population. The hypothalamic and hepatic transcriptomes of nine extreme animals for growth and fatness from an (Iberian × Landrace) × Landrace backcross were analyzed by RNA-Seq methodology, and SNP calling was conducted. More than 125 000 single nucleotide variants (SNVs) were identified in each tissue, and 78% were considered to be potential SNPs, those SNVs segregating in the context of this study. Potential informative SNPs were detected by considering those showing a homozygous or heterozygous genotype in one extreme group and the alternative genotype in the other group. In this way, 4396 and 1862 informative SNPs were detected in hypothalamus and liver respectively. Out of the 32 SNPs selected for validation, 25 (80%) were confirmed as actual SNPs. Association analyses for growth, fatness and premium cut yields with 19 selected SNPs were carried out, and four potential causal genes (RETSAT, COPA, RNMT and PALMD) were identified. Interestingly, new RNA editing modifications were detected and validated for the NR3C1:g.102797 (ss1985401074) and ACSM2B:g.13374 (ss1985401075) positions and for the COG3:g3.4525 (ss1985401087) modification previously identified across vertebrates, which could lead to phenotypic variation and should be further investigated.

Costilla cervical en el diagnóstico diferencial de una masa supraclavicular / Cervical rib in the differential diagnosis of supraclavicular mass

La costilla cervical consiste en una costilla supernumeraria que surge de la séptima vértebra cervical y termina libremente en el tejido del cuello o se articula con la primera costilla. Puede ser asintomática y diagnosticarse como hallazgo casual en una radiografía de tórax, o bien presentarse con dolor en la región supraclavicular o como complicación en forma de síndrome del desfiladero torácico. A menudo plantea diagnóstico diferencial con masas tumorales malignas, por sus características en la exploración. El manejo suele ser conservador y la intervención quirúrgica se reserva para casos muy sintomáticos o complicados. Presentamos un caso clínico de costilla cervical sintomática y su abordaje desde Atención Primaria (AU)

Cervical rib is a supernumerary rib arising from the seventh cervical vertebra and ends freely in the tissue of the neck or articulates with the first rib. It can be diagnosed as an asymptomatic incidental finding on a chest radiograph or presented with supraclavicular pain or complications as thoracic outlet syndrome. The differential diagnosis often poses malignant tumor masses, because of their characteristics in the physical exam. The management is often conservative reserving surgical intervention for highly symptomatic or complicated cases. We report a case of symptomatic cervical rib and its approach from Primary Care (AU)