CHARACTERIZING STRUCTURAL VARIATIONS (SV) AND TOPOLOGICALLY ASSOCIATING DOMAINS (TAD) IN PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA

Marcio Luiz Magrini

Título do Trabalho

Autores

Marcio Luiz Magrini

Modalidade

Apresentação de Pôster

Área temática

Genética Animal e Evolução

Data de Publicação

09/06/2023

País da Publicação

Brasil

Idioma da Publicação

Inglês

Página do Trabalho

https://www.even3.com.br/anais/v-gbmeeting/609768-characterizing-structural-variations-(sv)-and-topologically-associating-domains-(tad)-in-pediatric-acute-lymphobl

ISBN

978-85-5722-785-9

Palavras-Chave

Bioinformatics, Acute Lymphoblastic Leukemia (ALL), Structural Variations (SVs), Topologically Associating Domains (TAD), Gene expression, Long noncoding RNA (lncRNA)

Resumo

Author: Marcio Luiz Magrini Advisor: Dr. José Andrés Yunes Institution: Centro de Pesquisa Boldrini/Hospital Boldrini Acute Lymphoid Leukemia (ALL) is the most common type of cancer in childhood, accounting for about 25% of all cancer cases and 80% of all leukemias that occur up to the age of 15 years. Despite improvements in the success of ALL therapy, this disease is still the most common cause of cancer-related death in children worldwide. It is a heterogeneous disease from a genetic and clinical point of view. Some molecular subtypes of ALL have a different prognosis and can be identified based on the presence of certain genetic alterations. Most LLA subtypes have been characterized regarding their genetic mutation profiles, however, their "normal" genomic structural variation (SV) profiles are yet to be analyzed. In populational terms, genetic differences seem to result in a higher frequency of structural genomic variations than any other class of mutations. Another issue that began to be studied just recently is the effect of chromosomal rearrangement over TADs (Topologically Associating Domains) regions. TADs represent chromosomal modules, responsible for regulating genomic expression through genes encapsulation and cis-action regulatory elements. Mutations that affect TAD regions and their intrinsic elements, such as protein coding genes, long non-coding RNAs (lncRNAs) and epigenetic regulators, can lead to the development of diseases such some types of cancer. In this project, we are analyzing public data from RNAseq, Whole Genomic Sequencing (WGS) and genomic structural alterations (Hi-C maps) regarding ALL, available in the St. Jude’s Hospital database, among others. We have the double objective to characterize SVs in ALL subtypes aforementioned and to evaluate the contribution of those SVs and eventual alterations in TAD regarding gene expression modulation. Mutations and SVs distant from each other can have the same effect when disrupting the same TAD. Considering the importance of chromosomal translocations and insertions/deletions in ALL genesis, we believe that unraveling their effects on chromosomal topology may bring us closer to understand the first stages of subversion of cellular homeostasis regarding gene expression regulation. Scholarship: CAPES

Título do Evento: V GBMeeting
Cidade do Evento: Campinas
Título dos Anais do Evento: Anais do GBMeeting: Encontro Anual da Pós Graduação em Genética e Biologia Molecular da UNICAMP
Nome da Editora: Even3
Meio de Divulgação: Meio Digital

Como citar

MAGRINI, Marcio Luiz. CHARACTERIZING STRUCTURAL VARIATIONS (SV) AND TOPOLOGICALLY ASSOCIATING DOMAINS (TAD) IN PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA.. In: Anais do GBMeeting: Encontro Anual da Pós Graduação em Genética e Biologia Molecular da UNICAMP. Anais...Campinas(SP) Unicamp, 2023. Disponível em: https//www.even3.com.br/anais/v-gbmeeting/609768-CHARACTERIZING-STRUCTURAL-VARIATIONS-(SV)-AND-TOPOLOGICALLY-ASSOCIATING-DOMAINS-(TAD)-IN-PEDIATRIC-ACUTE-LYMPHOBL. Acesso em: 03/01/2025