Search results for " Chromosomes"

Metilazione del DNA in artrite reumatoide

2005

Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…

P/CAF-mediated spermidine acetylation regulates histone acetyltransferase activity

2016

Histones and polyamines are important determinants of the chromatin structure. Histones form the core of nucleosome particles and their modification by acetylation of N-terminal tails is involved in chromatin structural changes and transcriptional regulation. Polyamines, including spermidine, are also targets of both cytoplasmic and nuclear acetylation, which in turn alters their affinity for DNA and nucleosomes. Previous studies report the interplay between polyamines metabolism and levels of histone acetylation, but the molecular basis of this effect is still unclear. In this work, we have analyzed the in vitro effect of spermidine on histone H3 acetylation catalyzed by P/CAF, a highly co…

Paraplangia sinespeculo, a new genus and species of bush-cricket, with notes on its biology and a key to the genera of Phaneropterinae (Orthoptera: T…

2018

Madagascar is a well-known hotspot of biodiversity. However, many Orthoptera, and especially the Tettigonioidea, belong to little-studied groups. Here we describe a new genus and species of bush-cricket reared from field-collected eggs.Paraplangiasinespeculogen. nov., sp. nov. belongs to Phaneropterinae and shares diagnostic characteristics with members of the tribe Amblycoryphini and its African subtribe Plangiina stat. nov.Paraplangia, which has a chromosome number of 31 X0, differs from other African members of the tribe and subtribe such asEurycoryphaandPlangia, which both have 29 X0. In addition to morphology, we describe the male calling song, female acoustic response, and mating beha…

Karyological studies in Coris julis (Pisces, Labridae).

1988

In the present investigation the diploid number 2n = 48 (NF = 58) has been determined for females, primary males, and secondary males of Coris julis from the Gulf of Palermo. Differentiated sex chromosomes have not been observed in the population under study.

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinti…

2011

International audience; The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been demonstrated in BWS and SRS. Among them, isolated DNA methylation defects account for approximately 60% of patients. To investigate whether cryptic copy number variations (CNVs) involving only part of one of the two imprinted domains account for 11p15 isolated…

Prospero hierae (Hyacinthaceae), a New Species from Marettimo Island (Sicily)

2009

A new species, Prospero hierae C. Brullo, S. Brullo, Giusso, Pavone & Salmeri (Hyacinthaceae), from Island of Marettimo (Egadi Archipelago, Sicily) is described and illustrated. Its chromosome number (2n = 14), leaf anatomy and ecology are examined. This small species with glaucous, adaxially flat leaves is closely related with the taxa belonging to the Prospero autumnale group and, in particular, it shows more affinities with P. corsicum, P. pulchellum and P. minimum.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

2016

Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…

A high incidence of meiotic silencing of unsynapsed chromatin is not associated with substantial pachytene loss in heterozygous male mice carrying mu…

2009

Meiosis is a complex type of cell division that involves homologous chromosome pairing, synapsis, recombination, and segregation. When any of these processes is altered, cellular checkpoints arrest meiosis progression and induce cell elimination. Meiotic impairment is particularly frequent in organisms bearing chromosomal translocations. When chromosomal translocations appear in heterozygosis, the chromosomes involved may not correctly complete synapsis, recombination, and/or segregation, thus promoting the activation of checkpoints that lead to the death of the meiocytes. In mammals and other organisms, the unsynapsed chromosomal regions are subject to a process called meiotic silencing of…

What can chromosomes tell us about the origin of primates?

2011

Chromosomes and the origins of Apes and Australopithecines

1996

International audience; Comparison of molecular data suggests that the higher apes (Gorilla, Pan) and humankind (Homo) are closely related and that they diverged from the common ancestor through two speciation events situated very closely together in time. Examination of the chromosomal formulas of the living species reveals a paradox on the distribution of mutated chromosomes which can only be re-solved by a model of trichotomic diversification. This new model of divergence from the common ancestor is characterized by the transition from (1) a monotypic phase to (2) a polytypic phase of three sub-species - pre-gorilla, pre-chimpanzee and pre-australopithecine. The quadruped ancestors of Au…