Search results for " Genetica"

Le razze umane non esistono, lo dimostra…. il colore della pelle!

2015

Alcune manifestazioni fenotipiche della specie umana sono tramandate di generazione in generazione secondo delle regole che apparentemente non seguono le classiche leggi di Mendel: sono i caratteri continui, un tipo particolare di ereditarietà in cui ha molta influenza l’ambiente ed anche le sue interazioni con il genoma. Solo per questi tipi particolari di caratteri è possibile definire due grandezze, l’ereditabilità e la varianza, che danno una misura di quanta sia la componente genetica e di quanto quella ambientale nella loro definizione. Studi di correlazione fra persone non imparentate e gemelli monozigoti hanno dimostrato che il carattere continuo umano “creste digitali” ha un alto v…

pRb loss and chromosomal instability in human cells.

2009

pRb loss and chromosomal instability in human cells. Recent studies suggest that Retinoblastoma tumor suppressor (RB) plays important roles in the prevention of chromosomal instability by regulating genes that control cell cycle progression and mitotic events. We investigated the effects of stable post-transcriptional silencing of RB in primary human fibroblasts (IMR90) and in near-diploid colon cancer cells (HCT116) focusing on chromosome missegregation mechanisms. Stable depletion of pRb was achieved by infection with the retroviral vector MSCV-LMP670 encoding a microRNA (miR670) targeting RB transcript. Cytogenetic, immunofluorescence microscopy and time-lapse video-microscopy analyses s…

RB, epigenetic changes and chromosomal alterations in human primary fibroblasts in culture

2008

The regulation of chromatin structure is a dynamic and complex process modulated by epigenetic mechanisms. Epigenetic changes as malfunctioning of histone modifications and DNA methylation could affect several different cellular processes like regulation of gene transcription and could compromise the correct chromosome condensation and segregation. Is important to note that these alterations have been correlated with cancer initiation/progression. In particular hypomethylation of pericentromeric regions, usually methylated, has been associated to chromosomal instability, as well as hypermethylation of promoter CpG islands of tumor suppressor genes (p16, CHFR, BRCA1) is considered a cause of…

Transient and stable depletion of RB induce different expression of genes involved in epigenetic modifications.

2008

Identification of molecular markers involved in cellular response to aneuploidy in normal and tumor cells

2020

Chromosomal instability promoted by RB depletion relied neither on p53 nor SAC dysfunction in HCT116 tumor cells

2008

COMBINING TRANSLATION READTHROUGH INDUCING DRUGS AND NONSENSE MEDIATED DECAY PATWHAY INHIBITION TO THE CFTR RESCUE IN CYSTIC FIBROSIS CELL MODEL SYST…

2021

Nonsense mutations affect 10% of patients with cystic fibrosis and produce a premature termination codon in CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) mRNA causing early termination of translation and leading to lack of CFTR function. A potential therapy for nonsense mutations provides the use of small molecules able to overcome the premature stop codon (PTC) by a readthrough mechanism that lead to synthesis a complete CFTR protein. Despite the good results obtained from this approach, TRIDs efficiency is considerably reduced by the poor amount of target transcript, that is the mRNA containing the PTC. The readthrough, indeed, does not occur on the totality of target transcr…

The retinoblastoma paradigm revisited

2008

Background: Retinoblastoma (Rb) is the most common primary malignant intraocular tumour in childhood. The "two hit" theory, formulated by Knudson in 1971 to explain the variegated clinical expression of the disease, led to the discovery of the so called tumour suppressor genes and the identification of the Rb1 as the prototype of such genes. Mutations of the Rb1 gene are now commonly believed to be the "cause" retinoblastoma, although epidemiological, clinical, and biological evidences argue against it. Material/Methods: The Authors have performed a systematic review of available data concerning clinical and diagnostic aspects of retinoblastoma, including molecular genetics. Meta analysis o…

Expression levels of PTHrP splicing variants and PTHrP promoter methylation states in differentiating mesenchymal stem cells

2012

Two immortalized rat astrocyte cell lines as in vitro model for specific cell proliferation studies: cytogenetic and epigenomic characterization and …

2018

Here we report differences between: 1) a heterogeneous population of primary rat brain astrocytes (Primary), in culture since several years ago, and 2) a cloned cell line (Clone), obtained from the Primary cells. Both populations maintain astrocyte morphology but, according to cytogenetic and epigenomic characterization, differ for the chromosomal asset from rat normal cells (42 chromosomes): Primary cells show mostly a bimodal karyotype with 41 or 43 chromosomes, and Clone has a unique-modal karyotype of 43 chromosomes. Interestingly, we also found that both cell lines show genome-wide DNA hypomethylation, with Clone showing even more pronounced demethylation respect to Primary cells. Thes…