Correction: Reversion from basal histone H4 hypoacetylation at the replication fork increases DNA damage in FANCA deficient cells.

[This corrects the article DOI: 10.1371/journal.pone.

Reversion from basal histone H4 hypoacetylation at the replication fork increases DNA damage in FANCA deficient cells.

The FA/BRCA pathway safeguards DNA replication by repairing interstrand crosslinks (ICL) and maintaining replication fork stability. Chromatin structure, which is in part regulated by histones posttranslational modifications (PTMs), has a role in maintaining genomic integrity through stabilization of the DNA replication fork and promotion of DNA repair. An appropriate balance of PTMs, especially acetylation of histones H4 in nascent chromatin, is required to preserve a stable DNA replication fork.

Frequent copy number variants in a cohort of Mexican-Mestizo individuals.

Background: The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes. Common CNVs have no apparent influence on the phenotype; however, some rare CNVs have been associated with phenotypic traits, depending on their size and gene content. CNVs are detected by microarrays of different densities and are generally visualized, and their frequencies analysed using the HapMap as default reference population.

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in .

Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in , , and account for most cases (~90%). This study evaluated the chromosomal, molecular, and physical phenotypic findings of a novel founder PV, identified in three patients with FA from the community of Oaxaca, Mexico.

Capture of Fullerenes in Cages and Rings by Forming Metal-π Bond Arene Interactions.

Nowadays, the task of the selectively capture of fullerene molecules from soot is the subject of several studies. The low solubility of fullerenes represents a drawback when the goal is to purify them and to carry out chemical procedures where they participate. There are different molecules that can act as a kind of cocoon, giving shelter to the fullerene cages in such a way that they can be included in a solution or can be extracted from a mix.

Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples.

Variation in the location of the 15p region D15Z1 is recognized as a polymorphism in several human populations. We used high-stringency Fluorescence In Situ Hybridization (FISH) to detect D15Z1 in a Mexican cohort. Here, we report the presence of extra D15Z1 sequences on the p-arm of acrocentric chromosomes other than 15 in two groups of Mexican couples, one with healthy offspring ( = 75) and the other with aneuploid offspring ( = 87), mainly trisomy 21.

FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.

Background: Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remarkable feature of FA; at least 22 FANC genes are known to cooperate in a unique FA/BRCA repair pathway.

Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes.

Turner syndrome (TS) is a common genetic disorder. TS-phenotype includes short stature, gonadal dysgenesis, cardiac and kidney malformations, low bone mineral density (low-BMD) and thyroiditis. TS-phenotype varies from patient to patient and the cause is not clear, the genomic background may be an important contributor for this variability.

Nonclonal Chromosome Aberrations and Genome Chaos in Somatic and Germ Cells from Patients and Survivors of Hodgkin Lymphoma.

Anticancer regimens for Hodgkin lymphoma (HL) patients include highly genotoxic drugs that have been very successful in killing tumor cells and providing a 90% disease-free survival at five years. However, some of these treatments do not have a specific cell target, damaging both cancerous and normal cells. Thus, HL survivors have a high risk of developing new primary cancers, both hematologic and solid tumors, which have been related to treatment.

Genomic chaos in peripheral blood lymphocytes of Hodgkin's lymphoma patients one year after ABVD chemotherapy/radiotherapy.

Hodgkin's lymphoma (HL) is a lymphoid malignancy representing 5% of all cancers in children, 16% in adolescents, and 30-40% of all malignant lymphomas and has a survival rate of ~95% at 10 years. One of the most common treatment schemes uses a cocktail of genotoxic agents including adriamycin, bleomycin, vinblastine, and dacarbazine (ABVD) with or without radiotherapy. We investigated the occurrence of chromosomal damage in peripheral blood lymphocytes from five patients diagnosed with HL who provided samples before (BT), during chemotherapy (DT) and ~1 year after ABVD chemotherapy/radiotherapy (AT).

TCNQ molecular semiconductor of the Cu(II)TAAB macrocycle: Optical and electrical properties.

The present study reports the doping of a semiconducting molecular material through the formation of hydrogen bonds between the macrocycle Cu(II)(TAAB) and the electronic acceptor TCNQ. According to density functional theory (DFT) calculations and electron paramagnetic resonance (EPR) analysis, the doped compound has the shape of a distorted square pyramid, with four nitrogen atoms in the equatorial position and the apical oxygen atom from the water ligands. These water molecules can generate strong hydrogen bonds with TCNQ and the TAAB metallic complex.

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Background: Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region.

Case Presentation: We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties.

Exohedral complexes of large fullerenes, a theoretical approach.

The possibility of existence of exohedral organometallic complexes of fullerenes larger than C in which their coordination can have η hapticity was studied from a theoretical point of view. Complexes containing C, C or C cages, as well as cyclopentadienyl (Cp), pentamethyl-cyclopentadienyl (MeCp), benzene rings and hexamethyl-phenyl (MePh) fragments as ligands, were designed and studied. The results show that many of these molecules can be thermodynamically stable and can have electronic interesting behavior.

Heterogeneous Diagnoses Underlying Radial Ray Anomalies.

Objective: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients.

Methods: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal.

Thiolated Au18 cluster: preferred Ag sites for doping, structures, and optical and chiroptical properties.

Recently, the X-ray determined structure of the thiolated Au18 cluster has been reported. In this communication, we addressed a study of structures and chiroptical properties of thiolated Au18 cluster doped with up to ten Ag atoms, which have been calculated by Time Dependent Density Functional Theory (TD-DFT). The number of Ag atoms was steadily varied and more stable isomers showed optical and Circular Dichroism (CD) spectra distinct from that found for the parent Au18 cluster.

NFE2L2 Gene Variants and Arsenic Susceptibility: A Lymphoblastoid Model.

Arsenic (As) exposure is a major risk for several types of cancer and metabolic diseases such as diabetes. The transcription factor nuclear factor erythroid 2-related factor (Nrf2) is a key mediator in the cellular defense against As-induced adverse effects. The -653G/A and -617C/A gene variants modulate expression levels of the Nrf2 coding gene (NFE2L2) and are postulated to be associated with several illnesses.

Hydroxyurea induces chromosomal damage in G2 and enhances the clastogenic effect of mitomycin C in Fanconi anemia cells.

Fanconi's anemia (FA) is a recessive disease; 16 genes are currently recognized in FA. FA proteins participate in the FA/BRCA pathway that plays a crucial role in the repair of DNA damage induced by crosslinking compounds. Hydroxyurea (HU) is an agent that induces replicative stress by inhibiting ribonucleotide reductase (RNR), which synthesizes deoxyribonucleotide triphosphates (dNTPs) necessary for DNA replication and repair.

Structures and chiroptical properties of the BINAS-monosubstituted Au38(SCH3)24 cluster.

The structure and optical properties of a set of R-1,1'-binaphthyl-2,2'-dithiol (R-BINAS) monosubstituted A-Au38(SCH3)24 clusters are studied by means of time dependent density functional theory (TD-DFT). While it was proposed earlier that BINAS selectively binds to monomer motifs (SR-Au-SR) covering the Au23 core, our calculations suggest a binding mode that bridges two dimer (SR-Au-SR-Au-RS) motifs. The more stable isomers show a negligible distortion induced by BINAS adsorption on the Au38(SCH3)24 cluster which is reflected by similar optical and Circular Dichroism (CD) spectra to those found for the parent cluster.

A Boolean network model of the FA/BRCA pathway.

Motivation: Fanconi anemia (FA) is a chromosomal instability syndrome originated by inherited mutations that impair the Fanconi Anemia/Breast Cancer (FA/BRCA) pathway, which is committed to the repair of DNA interstrand cross-links (ICLs). The disease displays increased spontaneous chromosomal aberrations and hypersensitivity to agents that create DNA interstrand cross-links. In spite of DNA damage, FA/BRCA-deficient cells are able to progress throughout the cell cycle, probably due to the activity of alternative DNA repair pathways, or due to defects in the checkpoints that monitor DNA integrity.

Hybridization vs. bond stretching isomerism in Ru(II) cyclometalated complexes of 2-phenylpyridine.

The phenomenon of formation of two isomers, yellow and orange, of the cyclometalated Ru(II) complex, [Ru(o-C₆H₄-py)(MeCN)₄]⁺, was investigated by EELS spectroscopy and theoretical calculations. Both forms show very similar structures and spectroscopic properties, but slight differences in X-ray data and absorption between them were noted. No double minimum on the potential energy surface was found and thus these two forms cannot be considered as bond stretching isomers.

On the π coordination of organometallic fullerene complexes.

Novel organometallic complexes of fullerene C₈₀ and aryl ligands were simulated. The nature and characteristics of this family of complexes involving π coordination between the fullerene and a metal centre have been studied from a theoretical point of view. We are particularly interested in complexes where η⁶ coordination is present, this being the strangest manifestation of known coordinations, and thus we have studied several known and simulated compounds of this kind in order to understand the lack of examples.