A5054085388- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- RNA regulation and disease
- Porphyrin Metabolism and Disorders
- Nonmelanoma Skin Cancer Studies
- Neurological diseases and metabolism
- Ocular Surface and Contact Lens
- Corneal Surgery and Treatments
- Chromosomal and Genetic Variations
- Cancer Genomics and Diagnostics
- Prion Diseases and Protein Misfolding
- Cutaneous lymphoproliferative disorders research
- Radiation Therapy and Dosimetry
- Mycobacterium research and diagnosis
- melanin and skin pigmentation
- Cutaneous Melanoma Detection and Management
- Nuclear Structure and Function
- Fungal Infections and Studies
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Ocular Oncology and Treatments
- RNA Research and Splicing
- Molecular Biology Techniques and Applications
Universidade de São Paulo
2016-2023
Instituto Butantan
2017
Versar (United States)
2017
Genome lesions trigger biological responses that help cells manage damaged DNA, improving cell survival. Pol eta is a translesion synthesis (TLS) polymerase bypasses block replicative polymerases, avoiding continued stalling of replication forks, which could lead to death. p53 also plays an important role in preventing death after ultraviolet (UV) light exposure. Intriguingly, we show does so by favoring DNA pol eta. In fact, the p53-dependent induction normal and repair-deficient XP-C human...
UVA-induced mutagenesis was investigated in human pol eta-deficient (XP-V) cells through whole-exome sequencing. In UVA-irradiated cells, the increase mutation frequency deficient included a remarkable contribution of C>T transitions, mainly at potential pyrimidine dimer sites. A strong C>A transversions, potentially due to oxidized bases, also observed non-irradiated XP-V indicating that basal caused by oxidative stress may be related internal tumours patients. The low levels mutations...
Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and high frequency of skin tumours at an early age. We identified community in the state Goias (central Brazil), sunny tropical region, incidence XP (17 patients among approximately 1000 inhabitants).To identify gene mutations affected map distribution alleles, correlating clinical phenotypes.Functional analyses DNA repair capacity cell-cycle responses after ultraviolet exposure were investigated...
Abstract Background Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to DNA repair system. Objectives To describe clinical molecular findings cohort 32 Brazilian individuals who received diagnosis XP. Methods Twenty‐seven families were screened for germline variants eight XP‐related genes. Results All ( N = 32) diagnosed with bi‐allelic pathogenic or...
Xeroderma pigmentosum variant (XP-V) is an autosomal recessive disease with increased risk of developing cutaneous neoplasms in sunlight-exposed regions. These cells are deficient the translesion synthesis (TLS) DNA polymerase eta, responsible for bypassing different types lesions. From exome sequencing 11 skin tumors a genetic XP-V patients' cluster, classical mutational signatures related to sunlight exposure, such as C>T transitions targeted pyrimidine dimers, were identified. However,...
Somatic hypermutation of immunoglobulin genes is a highly mutagenic process that B cell-specific and occurs during antigen-driven responses leading to antigen specificity antibody affinity maturation. Mutations at the Ig locus are initiated by Activation-Induced cytidine Deaminase equally distributed G/C A/T bases. This requires establishment error-prone repair pathways involving activity several low fidelity DNA polymerases. In physiological context, base pair mutations involve multiple...
Xeroderma pigmentosum (XP) is a rare genetic condition in which exposure to sunlight leads high tumor incidence due defective DNA repair machinery. Herein, we investigated seven patients clinically diagnosed with XP living small city, Montanhas (Rio Grande do Norte), the Northeast region of Brazil. We performed high-throughput sequencing and, surprisingly, identified two different mutated genes. Six carry novel homozygote mutation POLH/XPV gene, c.672_673insT (p.Leu225Serfs*33), while one...
Abstract Nucleotide excision repair (NER) is one of the main pathways for genome protection against structural DNA damage caused by sunlight, which in turn extensively related to skin cancer development. The mutation spectra induced UVB were investigated whole‐exome sequencing randomly selected clones NER‐proficient and XP‐C‐deficient human fibroblasts. As a model, cell line unable recognize remove lesions (XP‐C) was used compared complemented isogenic control (COMP). expected, significant...
Abstract Xeroderma Pigmentosum variant (XP-V) is an autosomal recessive disease with increased risk to develop cutaneous neoplasms in sunlight exposed regions. These cells are deficient the translesion synthesis DNA polymerase eta. Eleven skin tumors from a genetic cluster of XP-V patients had their exome sequenced. Mutational signatures identified for most were related ultraviolet exposure, such as C>T transitions targeted pyrimidine dimers. However, four samples carry different...
In central Brazil, in the municipality of Faina (state Goiás), small and isolated village Araras comprises a genetic cluster xeroderma pigmentosum (XP) patients. The high level consanguinity geographical isolation gave rise to frequency XP Recently, two founder events were identified affecting that community, with independent mutations at POLH gene, c.764 + 1 G > A (intron 6) c.907 C T; p.Arg303* (exon 8). These deleterious lead variant syndrome (XP-V). Previous reports both other countries:...
To assess Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum and correlate ocular surface changes.