A5021920163- Reproductive Biology and Fertility
- Sperm and Testicular Function
- DNA Repair Mechanisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Molecular Biology Techniques and Applications
- Animal Genetics and Reproduction
- Cancer-related molecular mechanisms research
- Chromosomal and Genetic Variations
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- Plant and Fungal Interactions Research
- Prenatal Screening and Diagnostics
- Renal and related cancers
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- CRISPR and Genetic Engineering
- Cell death mechanisms and regulation
- Advanced biosensing and bioanalysis techniques
- Genetics, Bioinformatics, and Biomedical Research
- Cancer Genomics and Diagnostics
- Neurobiology and Insect Physiology Research
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Hepatitis B Virus Studies
- Wnt/β-catenin signaling in development and cancer
Instituto de Investigaciones Biológicas Clemente Estable
2005-2025
Universidad de la República
2013-2025
Centro Uruguayo de Imagenología Molecular
2006-2011
University of Würzburg
1996
Spermatogenesis is a complex differentiation process that involves the successive and simultaneous execution of three different gene expression programs: mitotic proliferation spermatogonia, meiosis, spermiogenesis. Testicular cell heterogeneity has hindered its molecular analyses. Moreover, characterization short, poorly represented stages such as initial meiotic prophase ones (leptotene zygotene) remained elusive, despite their crucial importance for understanding fundamentals meiosis. We...
Infertility affects a considerable number of couples at reproductive age, with an incidence 10-15%. Approximately 25% cases are classified as idiopathic infertility. Often, errors during the meiotic stage appear to be related A crucial component first prophase is synaptonemal complex (SC), which plays fundamental role in homologous chromosome pairing and recombination. In many studies infertile patients, mutations affecting SC-coding genes have been identified. The generation humanized...
The discovery of a large number long noncoding RNAs (lncRNAs), and the finding that they may play key roles in different biological processes, have started to provide new perspective understanding gene regulation. It has been shown testes express highest amount lncRNAs among vertebrate tissues. However, although some studies addressed characterization along spermatogenesis, an exhaustive analysis differential expression at its stages is still lacking. Here, we present results for lncRNA...
Availability of purified or highly enriched fractions representing the various spermatogenic stages is a usual requirement to study mammalian spermatogenesis at molecular level. Fast preparation high quality testicular cell suspensions crucial when flow cytometry (FCM) chosen accomplish stage/s purification. Formerly, we reported method rapidly obtain good rodent for FCM analysis and sorting. Using that could distinguish purify early meiocytes (leptotene/zygotene stages, L/Z) from more...
Homogeneity of cell populations is a prerequisite for the analysis biochemical and molecular events during male gamete differentiation. Given complex organization mammalian testicular tissue, various methods have been used to obtain enriched or purified populations, including flow sorting. Current protocols are usually time-consuming may imply loss short-lived RNAs, which undesirable expression profiling. We describe an optimized method speed up preparation suitable suspensions cytometric...
More than 50% of cases primary ovarian insufficiency (POI) and nonobstructive azoospermia in humans are classified as idiopathic infertility. Meiotic defects may relate to at least some these cases. Mutations genes coding for synaptonemal complex (SC) components have been identified humans, hypothesized be causative the observed infertile phenotype. Mutation SYCE1 c.721C>T (former c.613C>T)-a familial mutation reported two sisters with amenorrhea-was first such found an SC central element...
Abstract Mammalian spermatogenesis is still nowadays poorly understood at the molecular level. Testis cellular heterogeneity a major drawback for spermatogenic gene expression studies, especially when research focused on stages that are usually very short and represented level such as initial meiotic prophase I (i.e., leptotene [L] zygotene [Z]). Presumably, genes whose products involved in critical events alignment, pairing recombination of homologous chromosomes expressed during early...
Mammalian testes are very complex organs that contain over 30 different cell types, including somatic testicular cells and stages of germline cells. This heterogeneity is an important drawback concerning the study bases mammalian spermatogenesis, as pure or enriched populations in certain sperm development needed for most molecular analyses. Various strategies such Staput, centrifugal elutriation, flow cytometry (FC) have been employed to obtain purified order enable differential gene...
Abstract Background Mammalian testis is a highly complex and heterogeneous tissue. This complexity, which mostly derives from spermatogenic cells, reflected at the transcriptional level, with largest number of tissue-specific genes long noncoding RNAs (lncRNAs) compared to other tissues, one highest rates alternative splicing. Although it known that adequate alternative-splicing patterns stage-specific isoforms are critical for successful spermatogenesis, so far only very limited reports...
Spermatogenesis is a complex differentiation process which requires the coordinate synthesis of diverse stage-specific proteins. In attempting large-scale identification and characterization those proteins, we have made use recently described mRNA differential display method (Liang Pardee, Science 257: 967-971, 1992). This based on reverse transcription mRNAs obtained from two different cell populations (pachytene spermatocytes spermatids in present study) followed by PCR reaction comparison...
By means of mRNA differential display and cDNA library screening we have characterized a novel gene the rat that is differentially expressed during spermatogenesis. Northern blot analyses showed its reaches highest level first meiotic prophase. The transcript appears to be testis-specific as it was not detectable in any nine other tissues tested. full length ORF encodes putative phosphoprotein containing serine stretch bipartite nuclear localization signal, which call Srsp1 (“serin-rich...
SPATS1 (spermatogenesis-associated, serine-rich 1) is an evolutionarily conserved, testis-specific protein that differentially expressed during rat male meiotic prophase. Some reports have suggested a link between underexpression/mutation and human pathologies such as infertility testicular cancer. Given the absence of functional studies, we generated Spats1 loss-of-function mouse model using CRISPR/Cas9 technology. The phenotypic analysis showed no overt phenotype in -/- mice, with both...
Mammalian testes are very complex organs that contain over 30 different cell types, including somatic testicular cells and stages of germline cells. This heterogeneity is an important drawback concerning the study bases mammalian spermatogenesis, as pure or enriched populations in certain sperm development needed for most molecular analyses1. Various strategies such Staput2,3, centrifugal elutriation1, flow cytometry (FC)4,5 have been employed to obtain purified order enable differential...
Abstract Objective To investigate if nonsense mutation SYCE1 c.613C˃T - found in women with familial primary ovarian insufficiency (POI)- is actually responsible for infertility, and to elucidate the involved molecular mechanisms. Design As most fundamental mammalian oogenesis events occur during embryonic phase, thus hindering study of POI’s etiology/pathogeny infertile women, we have used CRISPR/Cas9 technology generate a mouse model line an equivalent genome alteration (humanized mice)....