Ana Martínez-Marchal
A5042517759- DNA Repair Mechanisms
- Reproductive Biology and Fertility
- COVID-19 Impact on Reproduction
- Carcinogens and Genotoxicity Assessment
- COVID-19 and healthcare impacts
- Genetics, Aging, and Longevity in Model Organisms
- Nutrition, Genetics, and Disease
- Physiological and biochemical adaptations
- Renal and related cancers
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Parvovirus B19 Infection Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Epigenetics and DNA Methylation
- Cell death mechanisms and regulation
- Genetics and Neurodevelopmental Disorders
- Pregnancy and preeclampsia studies
- Microtubule and mitosis dynamics
- Molecular Biology Techniques and Applications
- Prenatal Screening and Diagnostics
- Maternal and fetal healthcare
- Reproductive System and Pregnancy
- Genomics and Chromatin Dynamics
- BRCA gene mutations in cancer
Magee-Womens Research Institute
2021-2024
University of Pittsburgh
2021-2024
Universitat Autònoma de Barcelona
2015-2021
CEP63 is a centrosomal protein that facilitates centriole duplication and regulated by the DNA damage response. Mutations in cause Seckel syndrome, human disease characterized microcephaly dwarfism. Here we demonstrate Cep63-deficient mice recapitulate syndrome pathology. The attrition of neural progenitor cells involves p53-dependent cell death, brain size rescued deletion p53. Cell death not result an aberrant response but triggered centrosome-based mitotic errors. In addition, Cep63 loss...
Pregnant women worldwide have been affected by COVID-19. As the virus is commonly spread to various organs via bloodstream and because human placental trophoblasts are directly bathed in maternal blood, feto-placental infection SARS-CoV-2 seems likely.
Abstract Background Cellular entry of SARS-CoV-2 has been shown to rely on angiotensin-converting enzyme 2 (ACE2) receptors, whose expression in the testis is among highest body. Additionally, risk mortality seems higher male COVID-19 patients, and though much published since first cases COVID-19, there remain unanswered questions regarding impact testes potential consequences for reproductive health. We investigated testicular alterations non-vaccinated deceased COVID-19-patients, precise...
To protect germ cells from genomic instability, surveillance mechanisms ensure meiosis occurs properly. In mammals, spermatocytes that display recombination defects experience a so-called recombination-dependent arrest at the pachytene stage, which relies on MRE11 complex—ATM—CHK2 pathway responding to unrepaired DNA double-strand breaks (DSBs). Here, we asked if p53 family members—targets of ATM and CHK2—participate in this arrest. We bred double-mutant mice combining mutation member (p53,...
Abstract Precise execution of recombination during meiosis is essential for forming chromosomally-balanced gametes. Meiotic initiates with the formation and resection DNA double-strand breaks (DSBs). Cellular responses to meiotic DSBs are critical efficient repair quality control, but molecular features these remain poorly understood, particularly in mammals. Here we report that damage response protein kinase ATR crucial completion prophase mice. Using a hypomorphic Atr mutation...
Mammalian oogonia proliferate without completing cytokinesis, forming cysts. Within these, oocytes differentiate and initiate meiosis, promoting double-strand break (DSBs) formation, which are repaired by homologous recombination (HR) causing the pairing synapsis of homologs. Errors in these processes activate checkpoint mechanisms, leading to apoptosis. At end prophase I, contrast with what is observed spermatocytes, accumulate unrepaired DSBs. Simultaneously cyst breakdown, there a massive...
ABSTRACT Although much has been published since the first cases of COVID-19, there remain unanswered questions regarding SARS-CoV-2 impact on testes and potential consequences for reproductive health. We investigated testicular alterations in deceased COVID-19-patients, precise location virus, its replicative activity, molecules involved pathogenesis. found that tropism is higher than previously thought reliable viral detection testis requires sensitive nanosensoring or RT-qPCR using a...
Abstract Reproductive longevity is critical for fertility and impacts healthy ageing in women, yet insights into the underlying biological mechanisms treatments to preserve it are limited. Here, we identify 290 genetic determinants of ovarian ageing, assessed using normal variation age at natural menopause (ANM) ∼200,000 women European ancestry. These common alleles influence clinical extremes ANM; top 1% susceptibility have an equivalent risk premature insufficiency those carrying monogenic...
ABSTRACT Precise execution of recombination during meiosis is essential for forming chromosomally balanced gametes. Meiotic initiates with the formation and resection DNA double-strand breaks (DSBs). Binding replication protein A (RPA) at resected DSBs fosters association RAD51 DMC1, primary effectors homology search. It well appreciated that cellular responses to meiotic are critical efficient repair quality control, but molecular features these remain poorly understood, particularly in...
Recently, we described that in the naked mole rat ovary it is possible to study ovarian reserve and mitotic expansion of germ cell postnatally. Herein, show oocyte vitro maturation using same ovary.
Summary Mammalian oogonia proliferate without completing cytokinesis producing germ cell cysts. Within these cysts, oocytes differentiate and enter meiosis, promote genome-wide double-strand break (DSBs) formation which repair by homologous recombination leads to synapsis of the chromosomes. Errors in or trigger activation surveillance mechanisms, traditionally called ‘pachytene checkpoint’, either them send cells programmed death. Contrary what is found spermatocytes, most present a...