Search results for "Duplication"

p27Kip1participates in the regulation of endoreplication in differentiating chick retinal ganglion cells

2015

Nuclear DNA duplication in the absence of cell division (i.e. endoreplication) leads to somatic polyploidy in eukaryotic cells. In contrast to some invertebrate neurons, whose nuclei may contain up to 200,000-fold the normal haploid DNA amount (C), polyploid neurons in higher vertebrates show only 4C DNA content. To explore the mechanism that prevents extra rounds of DNA synthesis in these latter cells we focused on the chick retina, where a population of tetraploid retinal ganglion cells (RGCs) has been described. We show that differentiating chick RGCs that express the neurotrophic receptors p75 and TrkB while lacking retinoblastoma protein, a feature of tetraploid RGCs, also express p27K…

Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication

2019

Phylogenetic origin and transcriptional regulation at the post-diauxic phase of SPI1, in Saccharomyces cerevisiae

2012

15 pages, 4 figures, supplementary material

Phylogenetic relationship of ubiquitin repeats in the polyubiquitin gene from the marine sponge Geodia cydonium

1994

Ubiquitin is a 76-residue protein which is highly conserved among eukaryotes. Sponge (Porifera) ubiquitin, isolated from Geodia cydonium, is encoded by a gene (termed GCUBI) with six repeats, GCUBI-1 to GCUBI-6. All repeat units encode the same protein (with one exception: GCUBI-4 encodes ubiquitin with a change of Leu to Val at position 71). On the nt level the sequences of the six repeats differ considerably. All changes (except in GCUBI-4) are silent substitutions, which do not affect the protein structure. However, there is one major difference between the repeats: Codons from both codon families (TCN and AGPy) are simultaneously used for the serine at position 65. Using this characteri…

Deriving and comparing deduplication techniques using a model-based classification

2015

Data deduplication has been a hot research topic and a large number of systems have been developed. These systems are usually seen as an inherently linked set of characteristics. However, a detailed analysis shows independent concepts that can be used in other systems. In this work, we perform this analysis on the main representatives of deduplication systems. We embed the results in a model, which shows two yet unexplored combinations of characteristics. In addition, the model enables a comprehensive evaluation of the representatives and the two new systems. We perform this evaluation based on real world data sets.

Evolution and functional differentiation of recently diverged phytochelatin synthase genes from Arundo donax L.

2019

Plant phytochelatin synthases undergo evolutionarily rapid functional differentiation after duplication, allowing fast and precise adjustment of metal detoxification capacity by modulation of both transcription and enzymatic activity.

WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

2015

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…

2016

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Attraverso lo specchio

2020

La fiaba racconta un faticoso processo di costruzione dell'identità attraverso un percorso doloroso che conduce la protagonista a rivisitare il suo intricato passato e, andando al cuore delle ferire, a conquistare degli spazi di vita meno densi di certezze, ma sicuramente più autentici. The fairy tale tells of a tiring process of building identity through a painful path that leads the protagonist to revisit her intricate past and, going to the heart of the wounds, to conquer living spaces less dense with certainties, but certainly more authentic.

Structure, organization and expression of two clustered cuticle protein genes during the metamorphosis of an insect, Tenebrio molitor.

1998

A 4-kb DNA segment of Tenebrio molitor (Insecta, Coleoptera) genomic DNA containing two larval-pupal cuticular genes has been cloned and sequenced. These genes, transcribed in opposite directions, are related in DNA sequence and the proteins encoded are very similar. Each of them contains a single intron located inside the sequence encoding the signal peptide, and a conserved sequence at -200 bp from the mRNA start position. These similarities in sequence suggest that these genes have evolved by duplication followed by diversification and that they are members of a family of genes with a common ancestry. They are the first example of clustered genes in Tenebrio molitor.