Maternal Vitamin D Deficiency Impairs the Development of β Cells in Offspring Rats in a Sex-Dependent Manner.

Recent studies have shown that maternal vitamin D deficiency (VDD) causes long-term metabolic changes in offspring. However, little is known about the impact of maternal VDD on offspring endocrine pancreas development and insulin secretion in the adult life of male and female animals. Female rats (Wistar Hannover) were fed either control (1000 IU Vitamin D3/kg), VDD (0 IU Vitamin D3/kg), or a Ca-enriched VDD diet (0 IU Vitamin D3/kg + Ca and P/kg) for 6 weeks and during gestation and lactation.

Integrative network analysis of differentially methylated regions to study the impact of gestational weight gain on maternal metabolism and fetal-neonatal growth.

Integrative network analysis (INA) is important for identifying gene modules or epigenetically regulated molecular pathways in diseases. This study evaluated the effect of excessive gestational weight gain (EGWG) on INA of differentially methylated regions, maternal metabolism and offspring growth. Brazilian women from "The Araraquara Cohort Study" with adequate pre-pregnancy body mass index were divided into EGWG (n=30) versus adequate gestational weight gain (AGWG, n=45) groups.

Dynamic methylation pattern of H19DMR and KvDMR1 in bovine oocytes and preimplantation embryos.

Purpose: This study aimed to evaluate the epigenetic reprogramming of ICR1 (KvDMR1) and ICR2 (H19DMR) and expression of genes controlled by them as well as those involved in methylation, demethylation, and pluripotency.

Methods: We collected germinal vesicle (GV) and metaphase II (MII) oocytes, and preimplantation embryos at five stages [zygote, 4-8 cells, 8-16 cells, morula, and expanded blastocysts (ExB)]. DNA methylation was assessed by BiSeq, and the gene expression was evaluated using qPCR.

The relationship between obesity-related methylation and and gene expression on offspring growth and body composition.

Background And Objective: Imprinted genes are important for the offspring development. To assess the relationship between obesity-related methylation and and gene expression and offspring growth and body composition.

Methods: Thirty-nine overweight/obese and 25 normal weight pregnant women were selected from the "Araraquara Cohort Study" according to their pre-pregnancy BMI.

Evidences of differential methylation in the genome during development in the cactophilic Drosophila species.

DNA methylation with 5-methylcytosine (5mC) has been reported in the genome of several eukaryotes, with marked differences between vertebrates and invertebrates. DNA methylation is poorly understood as its role in evolution in insects. Drosophila gouveai (cluster Drosophila buzzatii) presents larvae that develop obligatorily in necrotic tissues of cacti in nature, with the distribution of populations in South America, and plasticity of phenotypes in insect-plant interaction.

Excessive Gestational Weight Gain Alters DNA Methylation and Influences Foetal and Neonatal Body Composition.

Background: Changes in body weight are associated with the regulation of DNA methylation (DNAm). In this study, we investigated the associations between maternal gestational weight gain-related DNAm and foetal and neonatal body composition.

Methods: Brazilian pregnant women from the Araraquara Cohort Study were followed up during pregnancy, delivery, and after hospital discharge.

Global genomic methylation related to the degree of parasitism in cattle.

The objective of the present study was to characterize a herd of 72 ½ Angus × ½ Nellore heifers, identify the resistant, resilient and susceptible animals to parasites, relate the overall DNA methylation of these animals with the degree of parasitism, evaluated by the egg count per gram of feces (EPG), Haematobia irritans count (horn fly) and Rhipicephalus microplus count (bovine tick). The experiment was carried out in a completely randomized design, containing 72 treatments, with each animal considered a treatment, and 11 repetitions, with each collection within a year considered a repetition. The data obtained from the counts of the evaluated parasites were subjected to statistical analysis using the SISVAR program, to classify heifers according to the degree of parasitism in low (resistant), intermediary (resilient) and high (susceptible) parasite load for infection by nematodes, infestation by ticks and flies.

Expression of pluripotency-related genes in human glioblastoma.

Background: Cancer is a group of heterogeneous diseases characterized by several disruptions of the genetic and epigenetic components of cell biology. Some types of cancer have been shown to be constituted by a mosaic of cells with variable differentiation states, with more aggressive tumors being more undifferentiated. In most cases, undifferentiated tumor cells express associated embryonic markers such as the OCT4, NANOG, SOX2, and CARM1 genes.

Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients.

Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of development of primordial germ cells (PGCs) and their connection with ovarian failure in TS is poorly understood. An in vitro model of PGCs from TS would be beneficial for investigating genetic and epigenetic factors that influence germ cell specification.

Expression of candidate genes for residual feed intake in tropically adapted Bos taurus and Bos indicus bulls under thermoneutral and heat stress environmental conditions.

The objectives of this study were to measure the relative expression of the ATP1A1, NR3C1, POMC, NPY, and LEP genes in Caracu (Bos taurus) and Nelore (Bos indicus) bulls submitted to feed efficiency tests at high environmental temperatures, and to evaluate differences in adaptability to tropical conditions between breeds. Thirty-five Caracu and 30 Nelore bulls were submitted to a feed efficiency test using automated feeding stations. At the end of the test, the animals were subjected to thermoneutral (TN) and heat stress (HS) conditions.

Oral Rehabilitation of a Child with Hypohidrotic Ectodermal Dysplasia.

Hypohidrotic ectodermal dysplasia (HED) is a genetic condition characterized by abnormal development of two or more structures of the ectoderm, such as skin, hair, nails, teeth, or sweat glands. The most common dental anomalies are oligodontia and anodontia but taurodontism has also been described. These patients present a decrease of alveolar bone volume and alveolar ridge tapering due to congenitally missing teeth.

Effect of smoking on the DNA methylation pattern of the SOCS1 promoter in epithelial cells from the saliva of patients with chronic periodontitis.

Background: The aim of the present study was to evaluate the methylation pattern in the suppressor of cytokine signaling 1 (SOCS1) gene in smokers and non-smokers with chronic periodontitis (CP).

Methods: Methylation-specific polymerase chain reaction (PCR) was performed to determine the methylation status of the SOCS1 promoter in 45 saliva samples from smokers and non-smokers with CP.

Results: Cells from the saliva of CP patients who smoked were 7.

Variation in DNA methylation in the KvDMR1 (ICR2) region in first-trimester human pregnancies.

Objective: To investigate the levels of DNA methylation in the KvDMR1 (KvLQT1 differentially methylated region 1) in embryonic and extra-embryonic tissues.

Design: Cross-sectional study.

Setting: University medical center and clinical hospital.

The relationship among sperm global DNA methylation, telomere length, and DNA fragmentation in varicocele: a cross-sectional study of 20 cases.

Varicocele pathophysiology is related to increased oxidative stress, which might result in loss sperm DNA integrity as well as in genomic instability. Sperm telomere shortening and loss of global DNA methylation are the main features of genomic instability, leading to cell senescence and death, whereas sperm DNA fragmentation (SDF) characterizes the loss of chromatin integrity. We hypothesize that sperm genomic stability and DNA integrity is reduced in infertile men with moderate and large-sized varicoceles, thus being candidate markers of sperm quality in varicocele-related infertility.

A new chicken molecular sexing assay based on the Z chromosome dose and the MHM region.

Birds have a ZZ and ZW sex chromosome system (male and female, respectively). On the short arm of the Z chromosome of Gallus gallus domesticus there is a repetitive region called MHM region, which is absent on the W chromosome, that causes a natural copy number difference of the MHM region between the sexes, making possible the development of a quantitative PCR (qPCR) sexing assay, based on the Z chromosome double dose. Twenty-seven samples of tissues from eight adult Gallus gallus domesticus (four males and four females) were used to establish the parameters of the MHM copy-number sexing assay.

Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.

Objective: To analyze whether telomere length, X-chromosome inactivation (XCI), and androgen receptor (AR) GAG polymorphism are related to idiopathic premature ovarian insufficiency (POI).

Design: Case-control study.

Setting: University hospital.

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

[This corrects the article DOI: 10.1186/s13039-016-0249-5.].

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Background: Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for the phenotype. Male carriers of balanced X-autosome translocations are almost invariably infertile due to interruption of the spermatogenesis, but the mechanism is not fully understood.

Meiotic wave adds extra asymmetry to the development of female chicken gonads.

Development of female gonads in the chicken is asymmetric. This asymmetry affects gene expression, morphology, and germ cell development; consequently only the left ovary develops into a functional organ, whereas the right ovary remains vestigial. In males, on the other hand, both gonads develop into functional testes.

5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.

X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female eutherian mammals. XCI assures monoallelic expression in each cell and compensation for dosage-sensitive X-linked genes between females (XX) and males (XY). DNA methylation at the carbon-5 position of the cytosine pyrimidine ring in the context of a CpG dinucleotide sequence (5meCpG) in promoter regions is a key epigenetic marker for transcriptional gene silencing.

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing of four individuals affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltransferase 1 choline enzyme, which is responsible for converting phosphocholine into cytidine diphosphate-choline, a key intermediate step in the phosphatidylcholine biosynthesis pathway.

A rare non-Robertsonian translocation involving chromosomes 15 and 21.

Context: Robertsonian translocations (RT) are among the most common balanced structural rearrangements in humans and comprise complete chromatin fusion of the long arm of two acrocentric chromosomes. Nevertheless, non-Robertsonian translocation involving these chromosomes is a rare event.

Case Report: We report a de novo unbalanced translocation involving chromosomes 15 and 21.

Autism spectrum disorder in a girl with a de novo x;19 balanced translocation.

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects.

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.

Trisomy 16q is a clinically recognizable entity presenting with a wide spectrum of abnormalities. Only five infants with a diagnosis of partial trisomy 16q13 → qter have been previously reported, and all died during the first year of life. We report the clinical and molecular cytogenetic findings in a patient with trisomy 16q13 → qter due to the presence of a supernumerary marker chromosome (SMC).