Search results for " nucleic acid"
showing 10 items of 272 documents
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
2022
Background: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated with a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Objectives: To explore interferon signaling in DNASE1L3 deficient patients. To depict the characteristic features of DNASE1L3 deficiencies in human. Methods: We identified, characterized, and analyzed five new patients carrying biallelic DNASE1L3 variations. Whole or targeted exome and/or Sanger sequencing was performed to detect pathogenic variations in five juvenile …
A sequence motif enriched in regions bound by the Drosophila dosage compensation complex
2010
Abstract Background In Drosophila melanogaster, dosage compensation is mediated by the action of the dosage compensation complex (DCC). How the DCC recognizes the fly X chromosome is still poorly understood. Characteristic sequence signatures at all DCC binding sites have not hitherto been found. Results In this study, we compare the known binding sites of the DCC with oligonucleotide profiles that measure the specificity of the sequences of the D. melanogaster X chromosome. We show that the X chromosome regions bound by the DCC are enriched for a particular type of short, repetitive sequences. Their distribution suggests that these sequences contribute to chromosome recognition, the genera…
Distinct Clones of Yersinia pestis Caused the Black Death
2010
From AD 1347 to AD 1353, the Black Death killed tens of millions of people in Europe, leaving misery and devastation in its wake, with successive epidemics ravaging the continent until the 18th century. The etiology of this disease has remained highly controversial, ranging from claims based on genetics and the historical descriptions of symptoms that it was caused by Yersinia pestis to conclusions that it must have been caused by other pathogens. It has also been disputed whether plague had the same etiology in northern and southern Europe. Here we identified DNA and protein signatures specific for Y. pestis in human skeletons from mass graves in northern, central and southern Europe that …
Rat tyrosine kinase inhibitor shows sequence similarity to human α2-HS glycoprotein and bovine fetuin
1991
Human alpha 2-HS glycoprotein and bovine fetuin, abundant proteins of fetal plasma, are structural members of the fetuin family within the cystatin superfamily. They are characterized by the presence of two N-terminally located cystatin-like units and a unique C-terminal sequence segment not present in the other members of the cystatin superfamily. Search for related sequences revealed that the natural inhibitor of the insulin receptor tyrosine kinase [Auberger, Falquerho, Contreres, Pages, Le Cam, Rossi & Le Cam (1989) Cell (Cambridge, Mass.) 58, 631-640] shows sequence similarity to the mammalian fetuins. The sequence identity between rat tyrosine kinase inhibitor, human alpha 2-HS gl…
Study of the aminopeptidase N gene family in the lepidopterans Ostrinia nubilalis (Hübner) and Bombyx mori (L.): Sequences, mapping and expression
2010
Aminopeptidases N (APNs) are a class of ectoenzymes present in lepidopteran larvae midguts, involved in the Bacillus thuringiensis (Bt) toxins mode of action. In the present work, seven aminopeptidases have been cloned from the midgut of Ostrinia nubilalis, the major Lepidopteran corn pest in the temperate climates. Six sequences were identified as APNs because of the presence of the HEXXH(X)18E and GAMEN motifs, as well as the signal peptide and the GPI-anchor sequences. The remaining sequence did not contain the two cellular targeting signals, indicating it belonged to the puromycin-sensitive aminopeptidase (PSA) family. An in silico analysis allowed us to find orthologous sequences in Bo…
The organization, localization and nucleotide sequence of the histone genes of the midge Chironomus thummi.
1991
Several histone gene repeating units containing the genes for histones H1, H2A, H2B, H3 and H4 were isolated by screening a genomic DNA library from the midge Chironomus thummi ssp. thummi. The nucleotide sequence of one complete histone gene repeating unit was determined. This repeating unit contains one copy of each of the five histone genes in the order and orientation mean value of H3 H4 mean value of H2A H2B H1 mean value of. The overall length is 6262 bp. The orientation, nucleotide sequence and inferred amino acid sequence as well as the chromosomal arrangement and localization are different from those reported for Drosophila melanogaster. The codon usage also shows marked difference…
Functional characterization of the enhancer blocking element of the sea urchin early histone gene cluster reveals insulator properties and three esse…
2000
Insulator elements can be functionally identified by their ability to shield promoters from regulators in a position-dependent manner or their ability to protect adjacent transgenes from position effects. We have previously reported the identification of a 265 bp sns DNA fragment at the 3' end of the sea urchin H2A early histone gene that blocked expression of a reporter gene in transgenic embryos when placed between the enhancer and the promoter. Here we show that sns interferes with enhancer-promoter interaction in a directional manner. When sns is placed between the H2A modulator and the inducible tet operator, the modulator is barred from interaction with the basal promoter. However, th…
Apoptosis in sea urchin embryos.
1997
Abstract It is demonstrated by DNA electrophoresis analysis, morphological observations and TdT in situ reaction, that Paracentrotus embryos if treated with TPA plus heat undergo an apoptotic reaction. Indication is also obtained that non treated embryos undergo spontaneous apoptosis at the early pluteus stage, expecially in the districts of arms and intestine. The possible meaning of this latter observation is discussed.
ITS1 region of the rDNA of Pythium megacarpum sp. nov., its taxonomy, and its comparison with related species.
2000
Pythium megacarpum sp. nov., was isolated from a soil sample taken from a wheat field in Lille in northern France. It was mistakenly described as Pythium ostracodes Drechsler [Paul, B (1994) Cryptogam. -Mycol. 15,263-271]. Despite morphological resemblance, the comparison between the internal transcribed spacer (ITS)1 regions of the rDNA of the two fungi, leaves no doubt of their different identities. This species is unique because of its large oogonia and plerotic, thick walled oospores, its monoclinous antheridia with large antheridial cells and its lack of zoospores. The character combination of P. megacarpum and the ITS1 sequence of its rDNA, justifies the creation of a new species with…
FISH mapping of 18S rDNA and (TTAGGG)n sequences in two pipefish species (Gasteroisteiformes: Syngnathidae).
2006
1Istituto di Scienze Marine, Sezione di Venezia, CNR, Castello 1364/a, 30122 Venezia, Italy 2Dipartimento di Biologia Animale, Universita di Palermo, Via Archirafi 18, 90123 Palermo, Italy 3Dipartimento di Scienze Ambientali, Universita “Ca’ Foscari”, Castello 2737/b 30122 Venezia, Italy 4Istituto di Ecologia e Biologia Ambientale, Universita di Urbino “Carlo Bo”, Via I. Maggetti 22, 61029 Urbino (PU), Italy