Investigation of the mechanisms involved in the formation and stabilization of ring chromosome, supernumerary markers and terminal deletion.

• Grant number: 12/15572-7
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: March 01, 2013
• End date: April 30, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Maria Isabel de Souza Aranha Melaragno
• Grantee: Roberta dos Santos Guilherme
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

With the development of molecular cytogenetic techniques, among them FISH and array methodologies, nowadays it is possible to identify and characterize different types of chromosomal alterations with a higher resolution. In addition to the molecular cytogenetic methods, PCR and sequencing techniques have permitted DNA analysis of the regions involved in these rearrangements, increasing the knowledge of the genomic architecture responsible for them. Among the chromosomal rearrangements, the ring chromosomes and the small supernumerary marker chromosomes (sSMC) constitute peculiar types of chromosomes derived, especially in terms of their mechanisms of formation and stabilization. The telomeres have a crucial role in the stabilization of these chromosome alterations, as well for terminal deletions. Thus, the present project proposes the study of patients with ring chromosomes, sSMC and terminal deletion 18q using classical cytogenetic, FISH, array, PCR and sequencing in order to determine the extension of the genomic imbalances and their breakpoints. The results of the study in these patients will contribute to a greater knowledge of the mechanisms of formation and stabilization of chromosomal imbalances.

Scientific publications

(4)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

GUILHERME, ROBERTA SANTOS; MOYSES-OLIVEIRA, MARIANA; DANTAS, ANELISA GOLLO; MELONI, VERA AYRES; COLOVATI, MILENY ESBRAVATTI; KULIKOWSKI, LESLIE DOMENICI; MELARAGNO, MARIA ISABEL. Position effect modifying gene expression in a patient with ring chromosome 14. JOURNAL OF APPLIED GENETICS, v. 57, n. 2, p. 183-187, MAY 2016. (12/51150-0, 12/15572-7)

GUILHERME, ROBERTA SANTOS; MELONI, VERA AYRES; ALVAREZ PEREZ, ANA BEATRIZ; PILLA, ANA LUIZA; PAULA DE RAMOS, MARCO ANTONIO; DANTAS, ANELISA GOLLO; TAKERO, SYLVIA SATOMI; KULIKOWSKI, LESLIE DOMENICI; MELARAGNO, MARIA ISABEL. Duplication 9p and their implication to phenotype. BMC MEDICAL GENETICS, v. 15, DEC 20 2014. (12/51150-0, 12/15572-7)

GUILHERME, ROBERTA SANTOS; SOARES, KARINA CUNHA; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; GIL-DA-SILVA-LOPES, VERA LUCIA; KIM, CHONG AE; BRUNONI, DECIO; SPINNER, NANCY BETTINA; CONLIN, LAURA KATHLEEN; CHRISTOFOLINI, DENISE MARIA; et al. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 164, n. 7, p. 1659-1665, JUL 2014. (12/51150-0, 12/15572-7)

GUILHERME, ROBERTA SANTOS; HERMETZ, KAREN E.; VARELA, PATRICIA TEIXEIRA; ALVAREZ PEREZ, ANA BEATRIZ; MELONI, VERA AYRES; RUDD, M. KATHARINE; KULIKOWSKI, LESLIE DOMENICI; MELARAGNO, MARIA ISABEL. Terminal 18q deletions are stabilized by neotelomeres. MOLECULAR CYTOGENETICS, v. 8, MAY 13 2015. (12/51150-0, 12/15572-7)