Sylvie Antonini - Academia.edu (original) (raw)

Papers by Sylvie Antonini

Research paper thumbnail of Investigação por hibridação in situ fluorescente de deleções do gene NF1 em afetados pela neurofibromatose tipo 1

Research paper thumbnail of Identificação de rearranjo do braço curto do cromossomo 3 e mapeamento dos pontos de quebra

Genetics and Molecular Biology, 2000

Research paper thumbnail of Análise dos pontos de quebra em um cromossomo 3 derivado de translocação t(1;3) - der(3)t(1;3)(q42.1;p26)

Research paper thumbnail of Breakpoint mapping in a human chromosome 3p rearrangement

Research paper thumbnail of A busca e a caracterização de deleções do gene NF1 em afetados pela neurofibromatose tipo 1

Research paper thumbnail of Developmental changes in the ploidy of mouse implanting trophoblast cells in vitro

Histochem Cell Biol, 2003

Shortly after the onset of implantation, polar mouse trophoblast cells proliferate and give rise ... more Shortly after the onset of implantation, polar mouse trophoblast cells proliferate and give rise to the ectoplacental cone, constituted by two distinct cell populations: undifferentiated, diploid cells and giant cells. Giant cells characteristically exhibit exaggerated dimensions and polyploid nuclei. In this study, we employ ectoplacental cones as a dynamic source of trophoblast giant cells to analyze cell proliferation, cell death, and ploidy under in vitro conditions. Our results show that DNA synthesis and the increase in the cell number are relevant only during the first 24 h of culture. Subsequently, DNA synthesis still occurs, mainly in the giant cell compartment, while the number of cells gradually decreases. Cell death by injury and apoptosis was also observed in the non-giant cell compartment of the ectoplacental cone. These findings suggest that the first 24 h of culture are crucial to the mitotic activity of the ectoplacental cone cells that gradually ceases, favoring the endoreduplication process. The DNA synthesis index during the subsequent experimental intervals emphasizes accumulation of DNA for the polyploidization. There was clear correlation between DNA content and nuclear dimension. The ploidy values for the trophoblast giant cells varied from 2C up to 368C in the giant cells, but were not as expressive as those known from in vivo conditions, probably due to the absence of regulatory factors specific to the embryonic-maternal interface. In situ hybridization and histochemistry for the nucleolusorganizing region showed that trophoblast nuclei have only two marker signals, indicative of a typical polytenic process. This present study elucidates important aspects of trophoblast behavior and provides new information on trophoblast physiology in vivo and in vitro.

Research paper thumbnail of RB1 deletion in gonadoblastoma in an XY female

Human Genetics, 1997

Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral ... more Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral gonadoblastoma were performed. The karyotype was 46,XY in peripheral blood lymphocytes and skin fibroblasts. The conserved region of the SRY gene was detected by polymerase chain reaction amplification. Sequencing of this region did not reveal any alterations. A 46,XY chromosome constitution was observed in the right gonadoblastoma, but a partial deletion of chromosome 13 was present in the left tumor. This deletion included band 13q14, where the retinoblastoma gene is mapped. The study of the polymorphism of the variable number of tandem repeats region in intron 17 of the RB1 locus disclosed loss of heterozygosity in both the left tumor, which showed the deletion of chromosome 13, and in the right tumor, where no chromosome alterations of chromosome 13 were detected. In situ hybridization covering 130 kb of RB1 showed that a partial deletion of one of the RB1 alleles had occurred in the right tumor. Since the deletions affected different alleles in each tumor, independent events must have been involved in the development of the tumors. These findings point toward a significant role of RB1 in the development of gonadoblastoma.

Research paper thumbnail of Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications

American Journal of Medical Genetics, 2002

Research paper thumbnail of RB1 deletion in gonadoblastoma in an XY female

Human Genetics, 1997

Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral ... more Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral gonadoblastoma were performed. The karyotype was 46,XY in peripheral blood lymphocytes and skin fibroblasts. The conserved region of the SRY gene was detected by polymerase chain reaction amplification. Sequencing of this region did not reveal any alterations. A 46,XY chromosome constitution was observed in the right gonadoblastoma, but a partial deletion of chromosome 13 was present in the left tumor. This deletion included band 13q14, where the retinoblastoma gene is mapped. The study of the polymorphism of the variable number of tandem repeats region in intron 17 of the RB1 locus disclosed loss of heterozygosity in both the left tumor, which showed the deletion of chromosome 13, and in the right tumor, where no chromosome alterations of chromosome 13 were detected. In situ hybridization covering 130 kb of RB1 showed that a partial deletion of one of the RB1 alleles had occurred in the right tumor. Since the deletions affected different alleles in each tumor, independent events must have been involved in the development of the tumors. These findings point toward a significant role of RB1 in the development of gonadoblastoma.

Research paper thumbnail of Investigação por hibridação in situ fluorescente de deleções do gene NF1 em afetados pela neurofibromatose tipo 1

Research paper thumbnail of Identificação de rearranjo do braço curto do cromossomo 3 e mapeamento dos pontos de quebra

Genetics and Molecular Biology, 2000

Research paper thumbnail of Análise dos pontos de quebra em um cromossomo 3 derivado de translocação t(1;3) - der(3)t(1;3)(q42.1;p26)

Research paper thumbnail of Breakpoint mapping in a human chromosome 3p rearrangement

Research paper thumbnail of A busca e a caracterização de deleções do gene NF1 em afetados pela neurofibromatose tipo 1

Research paper thumbnail of Developmental changes in the ploidy of mouse implanting trophoblast cells in vitro

Histochem Cell Biol, 2003

Shortly after the onset of implantation, polar mouse trophoblast cells proliferate and give rise ... more Shortly after the onset of implantation, polar mouse trophoblast cells proliferate and give rise to the ectoplacental cone, constituted by two distinct cell populations: undifferentiated, diploid cells and giant cells. Giant cells characteristically exhibit exaggerated dimensions and polyploid nuclei. In this study, we employ ectoplacental cones as a dynamic source of trophoblast giant cells to analyze cell proliferation, cell death, and ploidy under in vitro conditions. Our results show that DNA synthesis and the increase in the cell number are relevant only during the first 24 h of culture. Subsequently, DNA synthesis still occurs, mainly in the giant cell compartment, while the number of cells gradually decreases. Cell death by injury and apoptosis was also observed in the non-giant cell compartment of the ectoplacental cone. These findings suggest that the first 24 h of culture are crucial to the mitotic activity of the ectoplacental cone cells that gradually ceases, favoring the endoreduplication process. The DNA synthesis index during the subsequent experimental intervals emphasizes accumulation of DNA for the polyploidization. There was clear correlation between DNA content and nuclear dimension. The ploidy values for the trophoblast giant cells varied from 2C up to 368C in the giant cells, but were not as expressive as those known from in vivo conditions, probably due to the absence of regulatory factors specific to the embryonic-maternal interface. In situ hybridization and histochemistry for the nucleolusorganizing region showed that trophoblast nuclei have only two marker signals, indicative of a typical polytenic process. This present study elucidates important aspects of trophoblast behavior and provides new information on trophoblast physiology in vivo and in vitro.

Research paper thumbnail of RB1 deletion in gonadoblastoma in an XY female

Human Genetics, 1997

Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral ... more Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral gonadoblastoma were performed. The karyotype was 46,XY in peripheral blood lymphocytes and skin fibroblasts. The conserved region of the SRY gene was detected by polymerase chain reaction amplification. Sequencing of this region did not reveal any alterations. A 46,XY chromosome constitution was observed in the right gonadoblastoma, but a partial deletion of chromosome 13 was present in the left tumor. This deletion included band 13q14, where the retinoblastoma gene is mapped. The study of the polymorphism of the variable number of tandem repeats region in intron 17 of the RB1 locus disclosed loss of heterozygosity in both the left tumor, which showed the deletion of chromosome 13, and in the right tumor, where no chromosome alterations of chromosome 13 were detected. In situ hybridization covering 130 kb of RB1 showed that a partial deletion of one of the RB1 alleles had occurred in the right tumor. Since the deletions affected different alleles in each tumor, independent events must have been involved in the development of the tumors. These findings point toward a significant role of RB1 in the development of gonadoblastoma.

Research paper thumbnail of Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications

American Journal of Medical Genetics, 2002

Research paper thumbnail of RB1 deletion in gonadoblastoma in an XY female

Human Genetics, 1997

Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral ... more Cytogenetic studies of normal and tumor cells in a patient with gonadal dysgenesis and bilateral gonadoblastoma were performed. The karyotype was 46,XY in peripheral blood lymphocytes and skin fibroblasts. The conserved region of the SRY gene was detected by polymerase chain reaction amplification. Sequencing of this region did not reveal any alterations. A 46,XY chromosome constitution was observed in the right gonadoblastoma, but a partial deletion of chromosome 13 was present in the left tumor. This deletion included band 13q14, where the retinoblastoma gene is mapped. The study of the polymorphism of the variable number of tandem repeats region in intron 17 of the RB1 locus disclosed loss of heterozygosity in both the left tumor, which showed the deletion of chromosome 13, and in the right tumor, where no chromosome alterations of chromosome 13 were detected. In situ hybridization covering 130 kb of RB1 showed that a partial deletion of one of the RB1 alleles had occurred in the right tumor. Since the deletions affected different alleles in each tumor, independent events must have been involved in the development of the tumors. These findings point toward a significant role of RB1 in the development of gonadoblastoma.