Search results for " genetica"

The phosphorylated pathway of serine biosynthesis is essential both for male gametophyte and embryo development and for root growth in Arabidopsis.

2013

This study characterizes the phosphorylated pathway of Ser biosynthesis (PPSB) in Arabidopsis thaliana by targeting phosphoserine phosphatase (PSP1), the last enzyme of the pathway. Lack of PSP1 activity delayed embryo development, leading to aborted embryos that could be classified as early curled cotyledons. The embryo-lethal phenotype of psp1 mutants could be complemented with PSP1 cDNA under the control of Pro35S (Pro35S:PSP1). However, this construct, which was poorly expressed in the anther tapetum, did not complement mutant fertility. Microspore development in psp1.1/psp1.1 Pro35S:PSP1 arrested at the polarized stage. The tapetum from these lines displayed delayed and irregular devel…

MOZ/TIF2-induced acute myeloid leukaemia in transgenic fish.

2008

The inv(8)(p11q13) chromosomal abnormality, described in acute myeloid leukaemias (AML), fuses the histone acetyl-transferase (HAT) MYST3 (MOZ) gene with another HAT gene, NCOA2 (TIF2). We generated a transgenic zebrafish in which the MYST3/NCOA2 fusion gene was expressed under control of the spi1 promoter. An AML developed in 2 of 180 MYST3/NCOA2-EGFP-expressing embryos, 14 and 26 months after injection of the fusion gene in a one-cell embryo, respectively. This leukaemia was characterised by an extensive invasion of kidneys by myeloid blast cells. This model, which is the first zebrafish model of AML, demonstrates the oncogenic potency of MYST3/NCOA2 fusion gene.

MBP-1 represses N-MYC expression and acts as a tumor suppressor in human Neuroblastoma LAN-5 cells

2013

Neuroblastoma is the most common extra-cranial solid tumor of childhood, originated from cells of the neural crest. Amplification of N-MYC gene and 1p-deletion are found in more than 30% of patients with advanced stages and they are associated with poor prognosis. An alternative translated product of the ENO1 gene, known as MBP-1 (c-myc promoter binding protein-1), acts as a negative regulator of the c-MYC oncogene, ERBB2 and COX-2 genes, furthermore, ENO1/MBP-1 overexpression in Neuroblastoma cells significantly reduces cell growth and induces apoptosis. Even though there are similarities between the c-MYC and N-MYC oncogenes, there are no evidences that MBP-1 is able to interact with N-MY…

MBP-1 reprime l’espressione di N-MYC e svolge il ruolo di oncosoppressore in cellule di Neuroblastoma umano LAN5

2013

Il Neuroblastoma, derivato da cellule neurali simpatiche primitive, è il tumore solido extracranico più comune dell'infanzia. L'amplificazione del gene N-MYC insieme a delezioni nel cromosoma 1p36, sono i marcatori molecolari più frequenti nel Neuroblastoma e sono associati a cattiva prognosi. MBP-1, prodotto alternativo della traduzione dell'mRNA del gene ENO1, è un repressore trascrizionale e agisce direttamente sul promotore dei geni c-MYC, ERBB2 e COX2 (1-3). In cellule di Neuroblastoma è stato osservato che l'espressione ectopica di ENO1/MBP-1 causa induzione di apoptosi e morte cellulare (4). Sebbene esistano similarità di struttura e funzionali tra i geni N-MYC e c-MYC non è noto se …

Study of Biodiversity for Fruit Valorization: the example of Ancient Apple Cultivars (Malus x domestica Borkh.) from Tuscany (Italy)

2010

Dscam1 Is Required for Normal Dendrite Growth and Branching But Not for Dendritic Spacing in Drosophila Motoneurons

2014

Down syndrome cell adhesion molecule, Dscam, serves diverse neurodevelopmental functions, including axon guidance and synaptic adhesion, as well as self-recognition and self-avoidance, depending on the neuron type, brain region, or species under investigation. InDrosophila, the extensive molecular diversity that results from alternative splicing of Dscam1 into >38,000 isoforms provides neurons with a unique molecular code for self-recognition in the nervous system. Each neuron produces only a small subset of Dscam1 isoforms, and distinct Dscam1 isoforms mediate homophilic interactions, which in turn, result in repulsion and even spacing of self-processes, while allowing contact with neig…

Are dendrites in Drosophila homologous to vertebrate dendrites?

2005

AbstractDendrites represent arborising neurites in both vertebrates and invertebrates. However, in vertebrates, dendrites develop on neuronal cell bodies, whereas in higher invertebrates, they arise from very different neuronal structures, the primary neurites, which also form the axons. Is this anatomical difference paralleled by principal developmental and/or physiological differences? We address this question by focussing on one cellular model, motorneurons of Drosophila and characterise the compartmentalisation of these cells. We find that motorneuronal dendrites of Drosophila share with typical vertebrate dendrites that they lack presynaptic but harbour postsynaptic proteins, display c…

O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclero…

2005

Mammalian neurofilaments (NFs) are modified by post-translational modifications that are thought to regulate NF assembly and organization. Whereas phosphorylation has been intensely studied, the role of another common modification, the attachment of O-linked N-acetylglucosamine (GlcNAc) to individual serine and threonine residues, is hardly understood. We generated a novel monoclonal antibody that specifically recognizes an O-glycosylated epitope in the tail domain of NF-M and allows determination of the glycosylation state at this residue. The antibody displays strong species preference for human NF-M, shows some reactivity with rat but not with mouse or bovine NF-M. By immunohistochemistr…

Morpho-agronomic and genetic diversity among twelve sicilian agro-ecotypes of lentil (Lens culinaris)

2015

Although Sicily is relatively small (about 25000 km2), it accounts for several agro-ecotypes of lentil (Lens culinaris Medik.), for many of which no data on morphological, agronomic, and organoleptic characteristics are available to date. Thus, experiments were performed to characterize 12 lentil agro-ecotypes from different areas of Sicily, including some small islands surrounding the main island, and to assess the extent of genetic diversity (by means of six inter-simple sequence repeat [ISSR] primers). A famous agro-ecotype from central Italy (Castelluccio di Norcia) and two commercial varieties from Canada (Eston and Laird) were also included in the study. The results showed a large deg…

The

2016

ABSTRACT Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles and in neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier …