A5018665596- Chromosomal and Genetic Variations
- RNA and protein synthesis mechanisms
- Plant Virus Research Studies
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Extracellular vesicles in disease
- Genomics and Phylogenetic Studies
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Cancer Genomics and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal cell carcinoma treatment
- Amyotrophic Lateral Sclerosis Research
- interferon and immune responses
- Agricultural and Food Production Studies
- RNA regulation and disease
Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
2016-2022
Hospital Universitario Virgen de las Nieves
2021
Universidad de Granada
2021
Parque Tecnológico de la Salud
2021
Departamento de Salud
2015
Half the human genome is made of transposable elements (TEs), whose ongoing activity continues to impact our genome. LINE-1 (or L1) an autonomous non-LTR retrotransposon in genome, comprising 17% its genomic mass and containing average 80-100 active L1s per that provide a source inter-individual variation. New insertions are thought accumulate mostly during embryogenesis. Surprisingly, can further somatic brain However, it currently unknown whether L1 retrotranspose other healthy tissues or...
Nearly half of the human genome is made transposable elements (TEs) whose activity continues to impact its structure and function. Among them, Long INterspersed Element class 1 (LINE-1 or L1) are only autonomously active TEs in humans. L1s expressed mobilized different cancers, generating mutagenic insertions that could affect tumor malignancy. Tumor suppressor microRNAs ∼22nt RNAs post-transcriptionally regulate oncogene expression frequently downregulated cancer. Here we explore whether...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease involving loss of motor neurons and having no known cure uncertain etiology. Several studies have drawn connections between altered retrotransposon expression ALS. Certain features the LINE-1 (L1) retrotransposon-encoded ORF1 protein (ORF1p) are analogous to those neurodegeneration-associated RNA-binding proteins, including formation cytoplasmic aggregates. In this study we explore these consider possible links L1...
Here, the role of non-invasive biomarkers in liquid biopsy was evaluated, mainly exosomes and mitochondrial DNA (mtDNA) as promising, novel, stable for renal cell carcinoma (RCC). A total 140 fractions (named from B to F) obtained by ultracentrifugations whole blood samples 28 individuals (13 patients 15 controls) were included. Nanoparticle Tracking Analysis (NTA) conducted characterized exosomal fraction. Subsequently, an analysis digital PCR (dPCR) using QuantStudio™ 3D Digital platform...
Transposable elements are biologically important components of eukaryote genomes. In particular, non-LTR retrotransposons (N-LTRrs) played a key role in shaping the human genome throughout evolution. this study, we compared retrotransposon insertions differentially present genomes Anatomically Modern Humans, Neanderthals, Denisovans and Chimpanzees, order to assess possible impact retrotransposition differentiation lineage. We first identified species-specific N-LTRrs established their...
Abstract This study is a comparison of the efficiency three technologies used for Y chromosome capture and next-generation sequencing (NGS) applied determining its whole sequence. Our main findings disclose that streptavidin–biotin magnetic particle-based methodology offers better deeper sequence coverage capture, compared to sorting microdissection procedures. Moreover, this less time consuming most selective capturing only chromosomal material, in contrast with other methodologies result...
Abstract Chromatin of male and female gametes undergoes a number reprogramming events during the transition from germ cell to embryonic developmental programs. Although rearrangement DNA methylation patterns occurring in zygote has been extensively characterized, little is known about dynamics modifications spermatid maturation. Here, we demonstrate that 5-carboxylcytosine (5caC) correlate with active transcription LINE-1 retroelements murine spermiogenesis. We show open reading frames...
ABSTRACT Long Interspersed Element 1 (LINE-1/L1) is an abundant retrotransposon that has greatly impacted human genome evolution. LINE-1s are responsible for the generation of millions insertions in current population. The characterization sporadic cases mosaic individuals carrying pathogenic L1-insertions, suggest heritable occurs during early embryogenesis. However, timing and potential genomic impact LINE-1 mobilization embryogenesis unknown. Here, we demonstrate inner cell mass...
The genetics of an individual is a crucial factor in understanding the risk developing neurodegenerative disease amyotrophic lateral sclerosis (ALS). There still large proportion heritability ALS, particularly sporadic cases, to be understood. Among others, active transposable elements drive inter-individual variability, and humans long interspersed element 1 (LINE1, L1), Alu SINE-VNTR-Alu (SVA) retrotransposons are source polymorphic insertions population. We undertook pilot study...
Abstract Background: Components of liquid biopsy are promising non-invasive biomarkers for monitoring the renal cell carcinoma (RCC) status. Present study tries to evaluate role exosomes and mitochondrial DNA (mtDNA) as promise, novel stable that could improve current ones in RCC. Methods: A total 140 fractions obtained by ultracentrifugations whole blood samples stored EDTA anticoagulant from 28 (13 patients 15 controls) were included present study. An exosome collection protocol exhaustive...
ABSTRACT Nearly half of the human genome is made transposable elements (TEs) whose activity continues to impact its structure and function. Among them, Long INterspersed Element class 1 (LINE-1 or L1) are only autonomously active TEs in humans. L1s expressed mobilized different cancers, generating mutagenic insertions that could affect malignancy. Tumor suppressor microRNAs ∼22nt RNAs post-transcriptionally regulate oncogene expression frequently downregulated cancer. Here we explore whether...
ABSTRACT Transposable Elements are biologically important components of eukaryote genomes. In particular, non-LTR retrotransposons (N-LTRrs) extensively shaped the human genome throughout evolution. this study, we compared retrotransposon insertions differentially present in genomes Anatomically Modern Humans, Neanderthals, Denisovans and Chimpanzees, order to assess possible impact retrotransposition differentiation lineage. Briefly, first identified species-specific N-LTRrs established...