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561.
Valentina Mengoli Elisabetta Bucciarelli Ramona Lattao Roberto Piergentili Maurizio Gatti Silvia Bonaccorsi 《PLoS genetics》2014,10(10)
Topoisomerase II is a major component of mitotic chromosomes but its role in the assembly and structural maintenance of chromosomes is rather controversial, as different chromosomal phenotypes have been observed in various organisms and in different studies on the same organism. In contrast to vertebrates that harbor two partially redundant Topo II isoforms, Drosophila and yeasts have a single Topo II enzyme. In addition, fly chromosomes, unlike those of yeast, are morphologically comparable to vertebrate chromosomes. Thus, Drosophila is a highly suitable system to address the role of Topo II in the assembly and structural maintenance of chromosomes. Here we show that modulation of Top2 function in living flies by means of mutant alleles of different strength and in vivo RNAi results in multiple cytological phenotypes. In weak Top2 mutants, meiotic chromosomes of males exhibit strong morphological abnormalities and dramatic segregation defects, while mitotic chromosomes of larval brain cells are not affected. In mutants of moderate strength, mitotic chromosome organization is normal, but anaphases display frequent chromatin bridges that result in chromosome breaks and rearrangements involving specific regions of the Y chromosome and 3L heterochromatin. Severe Top2 depletion resulted in many aneuploid and polyploid mitotic metaphases with poorly condensed heterochromatin and broken chromosomes. Finally, in the almost complete absence of Top2, mitosis in larval brains was virtually suppressed and in the rare mitotic figures observed chromosome morphology was disrupted. These results indicate that different residual levels of Top2 in mutant cells can result in different chromosomal phenotypes, and that the effect of a strong Top2 depletion can mask the effects of milder Top2 reductions. Thus, our results suggest that the previously observed discrepancies in the chromosomal phenotypes elicited by Topo II downregulation in vertebrates might depend on slight differences in Topo II concentration and/or activity. 相似文献
562.
Maria José Franco Brochado Maria Fernanda Chociay Gatti Marco Ant?nio Zago Ana Maria Roselino 《Memórias do Instituto Oswaldo Cruz》2016,111(2):101-105
Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1
gene (Nramp1/Slc11a1) is a gene that controls the susceptibility of
inbred mice to intracellular pathogens. Polymorphisms in the human
Slc11a1/Nramp1 gene have been associated with host susceptibility
to leprosy. This study has evaluated nine polymorphisms of the
Slc11a1/Nramp1 gene [(GT)n, 274C/T, 469+14G/C, 577-18G/A, 823C/T,
1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19
patients had the multibacillary and the paucibacillary clinical forms of the disease,
respectively), and 239 healthy controls matched by age, gender, and ethnicity. The
frequency of allele 2 of the (GT)n polymorphism was higher in leprosy patients [p =
0.04, odds ratio (OR) = 1.49], whereas the frequency of allele 3 was higher in the
control group (p = 0.03; OR = 0.66). Patients carrying the 274T allele (p
= 0.04; OR = 1.49) and TT homozygosis (p = 0.02; OR = 2.46), such
as the 469+14C allele (p = 0.03; OR = 1.53) of the 274C/T and 469+14G/C
polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and
control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A,
1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the
469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy,
while the allele 2 and 3 of the (GT)n polymorphism in the promoter region were
associated with susceptibility and protection to leprosy, respectively. 相似文献
563.
Gatti Vittorio Gelbs Michelle J. Guerra Rodrigo B. Gerber Michael B. Fritton Susannah P. 《Biomechanics and modeling in mechanobiology》2021,20(3):1135-1146
Biomechanics and Modeling in Mechanobiology - Muscle paralysis induced with botulinum toxin (Botox) injection increases vascular porosity and reduces osteocyte lacunar density in the tibial... 相似文献
564.
565.
566.
Alexandre Dalet Philippe Pierre Alexandre Dalet Rafael J Argüello Alexis Combes Lionel Spinelli Sebastien Jaeger Mathieu Fallet Thien-Phong Vu Manh Andreia Mendes Jessica Perego Marisa Reverendo Voahirana Camosseto Marc Dalod Tobias Weil Manuel A Santos Evelina Gatti Philippe Pierre 《The EMBO journal》2017,36(6):761-782
567.
Mark P. Sawicki Yu-Jui Yvonne Wan Carey L. Johnson James Berenson Richard Gatti Edward Passaro Jr 《Human genetics》1992,89(4):445-449
Summary Gastrinomas are pancreatic endocrine neoplasms that arise either sporadically or are inherited as part of the multiple endocrine neoplasia type I syndrome (MEN I). Loss of heterozygosity (LOH) in the region flanking the MEN I gene at chromosome 11q13 has been documented in a few sporadic and familial pancreatic endocrine tumors, but not previously in sporadic gastrinomas. It has therefore been suggested that gastrinomas develop by a mechanism different from other tumors associated with the MENI syndsrome. We report LOH on chromosome 11 in 5 of 11 sporadic gastrinomas. Four of these tumors have LOH for markers flanking the MEN I region. Molecular evaluation of segments of chromosomes 3, 13, and 17 known to contain cloned or putative tumor suppressor genes fail to show LOH except at one locus in one tumor. These data suggest that a tumor suppressor DNA segment exists at 11q13 that may be involved in the development of sporadic gastrinomas. 相似文献
568.
569.
Paolo Manunta Elisabetta Messaggio Nunzia Casamassima Guido Gatti Simona Delli Carpini Laura Zagato John M. Hamlyn 《生物化学与生物物理学报:疾病的分子基础》2010,1802(12):1214-1218
The Na+ pump and its Endogenous modulator Ouabain (EO) can be considered as an ancestral enzymatic system, conserved among species ranging from Drosophila to humans, related to Na handling. In this review, we examine how EO is linked with vascular function in hypertension and if it impacts the pathogenesis of heart and renal failure. Moreover, the molecular mechanism of endogenous ouabain-linked hypertension involves the sodium pump/sodium–calcium exchanger duet. Biosynthesis of EO occurs in adrenal glands and is under the control of angiotensin II, ACTH and epinephrine. Elevated concentrations of EO and in the sub-nanomolar concentration range were found to stimulate proliferation and differentiation of cardiac and smooth muscle cells. They may have a primary role in the development of cardiac dysfunction and failure. Experimental data suggest that the Na/K-ATPase α2-catalytic subunit causes EO-induced vasoconstriction. Finally, maneuvers that promote Na depletion, as diuretic therapy or reduced Na intake, raise the EO levels. Taken together, these findings suggest a key role for EO in body Na homeostasis. 相似文献