A5018588213- Genomics and Phylogenetic Studies
- Epigenetics and DNA Methylation
- Amino Acid Enzymes and Metabolism
- Metabolism and Genetic Disorders
- RNA and protein synthesis mechanisms
- Chromosomal and Genetic Variations
- Semantic Web and Ontologies
- RNA Research and Splicing
- Bone and Dental Protein Studies
- Drug Transport and Resistance Mechanisms
- Molecular Biology Techniques and Applications
- dental development and anomalies
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Advanced Database Systems and Queries
- Gene expression and cancer classification
- Retinal Development and Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Single-cell and spatial transcriptomics
- Photoreceptor and optogenetics research
- Natural Language Processing Techniques
- Biomedical Text Mining and Ontologies
- Data Mining Algorithms and Applications
- Oral microbiology and periodontitis research
- Forensic Anthropology and Bioarchaeology Studies
Universitat Pompeu Fabra
2022-2025
Institut de Biologia Evolutiva
2018-2025
Institute for Integrative Systems Biology
2023-2025
Universitat de València
2025
Barcelona Biomedical Research Park
2024
Consejo Superior de Investigaciones Científicas
2023-2024
University of Alicante
2014-2015
INTRODUCTION Improved understanding of how the developing human nervous system differs from that closely related nonhuman primates is fundamental for teasing out human-specific aspects behavior, cognition, and disorders. RATIONALE The shared unique functional properties are rooted in complex transcriptional programs governing development distinct cell types, neural circuits, regions. However, precise molecular mechanisms underlying features have been only minimally characterized. RESULTS We...
Abstract The Long-read RNA-Seq Genome Annotation Assessment Project Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. Using different protocols and sequencing platforms, consortium generated over 427 million sequences from complementary DNA direct RNA datasets, encompassing human, mouse manatee species. Developers utilized these data address challenges in transcript isoform detection, quantification de novo detection. study revealed that...
Abstract The Long-read RNA-Seq Genome Annotation Assessment Project (LRGASP) Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. consortium generated over 427 million sequences from cDNA and direct RNA datasets, encompassing human, mouse, manatee species, using different protocols sequencing platforms. These data were utilized by developers address challenges in transcript isoform detection quantification, as well de novo identification....
Ancient tooth enamel, and to some extent dentin bone, contain characteristic peptides that persist for long periods of time. In particular, from the enamel proteome (enamelome) have been used reconstruct phylogenetic relationships fossil taxa. However, enamelome is based on only about 10 genes, whose protein products undergo fragmentation in vivo post mortem. This raises question as whether alone provides enough information reliable inference. We address these considerations a selection...
Abstract Stargardt disease is an inherited retinopathy affecting approximately 1:8000 individuals. It characterised by biallelic variants in ABCA4 which encodes a vital protein for the recycling of retinaldehydes retina. Despite its prevalence and impact, there are currently no treatments available this condition. Furthermore, 35% STGD1 cases remain genetically unsolved. To investigate cellular molecular characteristics associated with STGD1, we generated iPSCs from two monoallelic...
Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much actual isoform repertoire contributing shaping primate evolution remains unknown. Here, we combined deep long- short-read sequencing complemented with mass spectrometry proteomics in a panel lymphoblastoid cell lines (LCLs) from human, three other great apes, rhesus macaque, producing largest full-length catalog primates date. Around half captured...
Abstract Ancient tooth enamel, and to some extent dentin bone, contain characteristic peptides that persist for long periods of time. In particular, from the enamel proteome (enamelome) have been used reconstruct phylogenetic relationships fossil specimens estimate divergence times. However, enamelome is based on only about 10 genes, whose protein products undergo fragmentation post mortem . Moreover, genes are paralogous or may coevolve. This raises question as whether provides enough...
Abstract SLC22A10 is an orphan transporter with unknown substrates and function. The goal of this study to elucidate its substrate specificity functional characteristics. In contrast orthologs from great apes, human SLC22A10, tagged green fluorescent protein, not expressed on the plasma membrane. Cells expressing ape exhibit significant accumulation estradiol-17β-glucuronide, unlike those SLC22A10. Sequence alignments reveal a proline at position 220 in humans, which leucine apes. Replacing...
Abstract Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling analysis traditionally neglected chromosomes, such as human Y chromosome (chrY). Native DNA was sequenced on a MinION Oxford Nanopore Technologies device to generate assemblies for seven major chrY haplogroups. We analyzed compared enrichment data obtained using two different selective approaches: adaptive sampling flow cytometry sorting. show...
SLC22A10 is classified as an orphan transporter with unknown substrates and function. Here we describe the discovery of substrate specificity functional characteristics SLC22A10. The human tagged green fluorescent protein was found to be absent from plasma membrane, in contrast orthologs great apes. Estradiol-17β-glucuronide accumulated cells expressing ape (over 4-fold, p<0.001). In contrast, displayed no uptake Sequence alignments revealed two amino acid differences including a proline at...
SLC22A10 is classified as an orphan transporter with unknown substrates and function. Here we describe the discovery of substrate specificity functional characteristics SLC22A10. The human tagged green fluorescent protein was found to be absent from plasma membrane, in contrast orthologs great apes. Estradiol-17β-glucuronide accumulated cells expressing ape (over 4-fold, p<0.001). In contrast, displayed no uptake Sequence alignments revealed two amino acid differences including a proline at...
Abstract Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling analysis traditionally neglected chromosomes, such as human Y chromosome (chrY). Native DNA was sequenced on a MinION Oxford Nanopore Technologies device to generate assemblies for 7 major chrY haplogroups. We analyzed compared enrichment data obtained using two different selective approaches: adaptive sampling flow cytometry sorting. show that...
Abstract Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much actual isoform repertoire contributing shaping primate evolution remains unknown. Here, we combined deep long- short-read sequencing complemented with mass spectrometry proteomics in a panel lymphoblastoid cell lines (LCLs) from human, three other great apes, rhesus macaque, producing largest full-length catalog primates date. Our...