A5050407648- DNA Repair Mechanisms
- Protease and Inhibitor Mechanisms
- Microtubule and mitosis dynamics
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Fish Ecology and Management Studies
- Ovarian cancer diagnosis and treatment
- Genetic diversity and population structure
- Peptidase Inhibition and Analysis
- Ubiquitin and proteasome pathways
- Reproductive Biology and Fertility
- Animal Genetics and Reproduction
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Blood Coagulation and Thrombosis Mechanisms
- Nuclear Structure and Function
- CRISPR and Genetic Engineering
- Signaling Pathways in Disease
- Identification and Quantification in Food
- Cell Adhesion Molecules Research
- Fish Biology and Ecology Studies
- Epigenetics and DNA Methylation
- Pluripotent Stem Cells Research
- Photosynthetic Processes and Mechanisms
- Endoplasmic Reticulum Stress and Disease
- Reproductive biology and impacts on aquatic species
Centro de Investigación del Cáncer
2016-2025
Universidad de Salamanca
2016-2025
Institut Jacques Monod
2023
Anna Needs Neuroblastoma Answers
2015
Instituto de Biologia Molecular e Celular
2012-2014
Centro de Investigación Biomédica en Red
2012
Centre for Biomedical Network Research on Rare Diseases
2012
Consejo Superior de Investigaciones Científicas
2012
Centro de Investigaciones Biológicas Margarita Salas
2012
Instituto de Investigación Biomédica de Salamanca
2012
Premature ovarian failure is a major cause of female infertility. The genetic causes this disorder remain unknown in most patients. Using whole-exome sequence analysis large consanguineous family with inherited premature failure, we identified homozygous 1-bp deletion inducing frameshift mutation STAG3 on chromosome 7. encodes meiosis-specific subunit the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid Stag3 are sterile, and their fetal oocytes arrested at...
Atlantic salmon 5S ribosomal DNA (5S rDNA) was amplified by the polymerase chain reaction, using as primers conserved sequences from coding region of rainbow trout rRNA. Two products different molecular weights were obtained, cloned, and sequenced, revealing them to be tandemly arranged. The nucleotide differed between two clones in length nontranscribed spacer (NTS) three nucleotides sequence. By means fluorescence situ hybridization rDNA chromosomally located heterochromatic arm pair...
We have cloned a novel member of the matrix metalloproteinase (MMP) family proteins from human liver cDNA library. The isolated contains an open reading frame coding for polypeptide 508 amino acids, which has been tentatively called MMP-19. This protein exhibits domain structure characteristic previously described MMPs, including signal sequence, prodomain with cysteine residue essential maintaining latency these enzymes, activation locus zinc-binding site, and COOH-terminal fragment...
A cDNA encoding a new human matrix metalloproteinase (MMP), tentatively called MMP-23, has been cloned from an ovary library. This protein exhibits sequence similarity with MMPs, but displays different domain structure. Thus, MMP-23 lacks recognizable signal and short prodomain, although it contains single cysteine residue that can be part of the cysteine-switch mechanism operating for maintaining enzyme latency. The C-terminal is considerably shortened shows no to hemopexin, whereas all...
A cDNA encoding a new human matrix metalloproteinase (MMP) has been cloned from RNA prepared odontoblastic cells. The open reading frame of the codes for polypeptide 483 amino acids and is extensively similar to sequence recently described porcine enamelysin, suggesting that isolated homologue this enzyme. Human enamelysin (MMP-20) domain organization other MMPs, including signal peptide, prodomain with conserved motif PRCGVPD involved in maintaining enzyme latency, catalytic Zn-binding...
Shugoshin-2 (SGOL2) is one of the two mammalian orthologs Shugoshin/Mei-S322 family proteins that regulate sister chromatid cohesion by protecting integrity multiprotein cohesin complexes. This protective system essential for faithful chromosome segregation during mitosis and meiosis, which physical basis Mendelian inheritance. Regardless its evolutionary conservation from yeast to mammals, little known about in vivo relevance specific role SGOL2 plays mammals. Here we show disruption gene...
Nuclear lamina alterations occur in physiological aging and premature syndromes. Because is also associated with abnormal stem cell homeostasis, we hypothesize that nuclear envelope could have an important impact on compartments. To evaluate this hypothesis, examined the number functional competence of cells Zmpste24-null progeroid mice, which exhibit defects. We show Zmpste24 deficiency causes alteration proliferative capacity epidermal cells. These changes are aberrant architecture bulge...
Mammalian gametogenesis involves dramatic and tightly regulated chromatin remodeling, whose regulatory pathways remain largely unexplored. Here, we generate a comprehensive high-resolution structural functional atlas of mouse spermatogenesis by combining in situ chromosome conformation capture sequencing (Hi-C), RNA (RNA-seq), immunoprecipitation (ChIP-seq) CCCTC-binding factor (CTCF) meiotic cohesins, coupled with confocal super-resolution microscopy. Spermatogonia presents well-defined...
Cohesin is a conserved multisubunit protein complex that participates in chromosome segregation, DNA damage repair, chromatin regulation, and synaptonemal (SC) formation. Yeast, but not mice, depleted of the cohesin subunit Rec8 are defective formation axial elements (AEs) SC, suggesting that, mammals, this function conserved. In paper, we show spermatocytes from mice lacking two meiosis-specific subunits RAD21L REC8 were unable to initiate RAD51- DMC1-mediated double-strand break able...
Abstract Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. The synaptonemal complex is a ‘zipper’-like protein assembly synapses homologue pairs together and provides the structural framework processing sites into crossovers. Humans show individual differences in number of generated across genome. Recently, an anonymous gene variant C14ORF39/SIX6OS1 was identified influences rate humans. Here we encodes component central...
The karyotype of the rainbow trout is characterized by a primitive XX/XY sex-determining chromosomal system. (Thorgaard et al., 1977). In present study using FISH we have physically linked 5S rRNA genes to partially undifferentiated X chromosome pair. PCR amplified rDNA was used for and hybridization signals indicated that were duplicated, in one acrocentric metacentric pair chromosomes. After analyzing several individuals, female metaphases showed four fluorescent whereas males presented...
The ribosomal RNA genes (rDNA) have been mapped by fluorescent in situ hybridization (FISH) using four rDNA probes (rDNA/FISH) to Atlantic salmon chromosomes. Signals appeared over the whole heterochromatic chromosome arm displaying secondary constriction and satellites. size polymorphism of this short arm, revealed C-banding, was confirmed rDNA/FISH, supporting large interindividual differences number copies. Conventional techniques for detection nucleolar organizer regions are discussed,...