Environment and lifestyle can affect the epigenome passed down from generation to generation. A mother\'s nutrition can impact the methylation levels of her offspring\'s epigenome, but it\'s unclear which genes may be affected by malnutrition during gestation or early development. In this study, we examined the levels of methylated GC in the promoter region of HLA-C in mothers and infants from the Kichwa community in Ecuador. To do this, we analyzed saliva samples using bisulfite DNA sequencing. While we did not observe any significant differences in the mean methylation percentages in exon 1 of HLA-C between mothers and their infants after the first two years of lactation and life, respectively, we did find that infants tended to increase their methylation level during the first two years of life, while mothers tended to decrease it after the first two years of breastfeeding. When we compared methylation levels between mothers and infants using an ANOVA/posthoc Tukey test, we found that the average methylation for the entire population was less than 3% at T1 and T2. Although there was a tendency for infants to have higher methylation levels during their first two years of life and for mothers to have lower methylation levels after the first two years of breastfeeding, the mean values were not significantly different. However, we found a significant difference when we contrasted the data using a Kruskal-Wallis test at 0.05 for T1 AND T2 (p-value: 0.0148). Specifically, mothers had an average of X̅ = 2.06% and sons had X̅ = 1.57% at T2 (p-value: 0.7227), while the average for mothers was X̅ = 1.83% and for sons X̅ =1.77%. Finally, we identified three CpG motif nucleotide positions (32-33, 43-44, and 96-97) along the 122 bp analysis of HLA-C exon one, which was found to retain methylation patterns over time and is inherited from mother to offspring. Finally, our small pilot study did not reveal significant correlations between maternal and offspring nutritional status and DNA methylation levels of HLA-C exon one.

Non-invasive prenatal diagnosis of monogenic disorders is becoming integrated into routine clinical care for many indications. This is carried out by testing cell-free DNA extracted from the plasma portion of a maternal blood sample. The cell-free DNA is low in concentration, and consists of a mixture of maternal and fetally-derived DNA which are not easy to separate. Methods used therefore need to be rapid, sensitive and specific, including real-time PCR, digital PCR and next generation sequencing with complex algorithms. Testing may be required for pregnancies with an increased chance of a monogenic disorder due to family history or carrier status, or where there are specific abnormalities identified by ultrasound scan. In these situations, testing is considered to be diagnostic and therefore does not require confirmation by invasive testing. With increased access to genomic technologies, and more diagnoses for rare disease patients, future demand for NIPD and possibilities during pregnancy will continue.

Leaf rust (caused by Puccinia triticina Erikss., Pt) is a severe foliar disease of cultivated wheat worldwide. Severe development of the disease results in significant losses in seed yield and quality. Growing immune varieties is the most rational method for Pt control in terms of effectiveness and ecological safety. However, the gene pool of cultivated wheat is very narrow for seedling Pt effective resistance genes, which hampers breeding for this trait. One of the well-known methods to broaden genetic diversity for resistance is the introgression of highly effective genes from wild relatives into the genomes of cultivated wheat. The Aegilops L. species have been proven to be perfectly suited for this purpose. No gene for Pt resistance has been transferred to wheat from Aegilops biuncialis Vis. (Lorent\'s goatgrass) up to now. Previously, we selected eight accessions of the species from the VIR (N.I. Vavilov All-Russian Institute of Plant Genetic Resources) genebank that showed a perfect level of resistance to leaf rust. In this research, we studied the genetic control of resistance using hybridological, phytopathological, and molecular analyses. According to the F1-F3 hybrid evaluation results, each accession possesses one dominant gene for Pt resistance, and genes in different accessions are allelic or very tightly linked. Phytopathological test clone analysis showed that this gene is not identical to Lr9, Lr19, Lr24, Lr39, and Lr47, which are effective against Pt populations in some areas of Russia. This conclusion was partially supported by the results of the identification of DNA markers specific to these genes in bread wheat. Thus, we identified one dominant gene (temporarily symbolized as LrBi1) for effective seedling Pt resistance; it is recommended for introgression to cultivated wheat via interspecific hybridization.

The epigenome and epigenetic inheritance were not included in the original modern synthesis theory or more recent extended evolutionary synthesis of evolution. In a broad range of species, the environment has been shown to play a significant role in natural selection, which more recently has been shown to occur through epigenetic alterations and epigenetic inheritance. However, even with this evidence, the field of epigenetics and epigenetic inheritance has been left out of modern evolutionary synthesis, as well as other current evolutionary models. Epigenetic mechanisms can direct the regulation of genetic processes (e.g. gene expression) and also can be directly changed by the environment. In contrast, DNA sequence cannot be directly altered by the environment. The goal of this review is to present the evidence of how epigenetics and epigenetic inheritance can alter phenotypic variation in numerous species. This can occur at a significantly higher frequency than genetic change, so correlates with the frequency of evolutionary change. In addition, the concept and importance of generational stability of transgenerational inheritance is incorporated into evolutionary theory. For there to be a better understanding of evolutionary biology, we must incorporate all aspects of molecular (e.g. genetics and epigenetics) and biological sciences (e.g. environment and adaptation).

UNASSIGNED: Imperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance. We describe a set of monozygotic premature twins with imperforate hymen noted at birth, whose mother was diagnosed with the same condition as a teenager. We also elucidate the likely underlying mode of inheritance of imperforate hymen.
UNASSIGNED: We utilized the CARE (Case Report) guideline in reporting the cases.
UNASSIGNED: These are monozygotic twins born prematurely at 30 weeks of gestation, noted at birth to have bulging cyst-like structures protruding from their vaginas. The twins were not dysmorphic and did not have any other congenital malformations. Over the next few weeks, these cyst-like structures (mucoceles) became less prominent. The genital anomaly was diagnosed as imperforate hymen. Their mother was also diagnosed with an imperforate hymen when she was 12 years old and was treated with hymenectomy.
UNASSIGNED: This unique occurrence of imperforate hymen in a set of premature monozygotic twins and their mother suggests a plausible autosomal or X-linked dominant mode of inheritance. Given the role of genetic inheritance in imperforate hymen development, it is important to screen female relatives of an index case for this genital anomaly.

Chromatin is dynamically modified throughout the plant life cycle to regulate gene expression in response to environmental and developmental cues. Although such epigenetic information can be inherited across generations in plants, chromatin features that regulate gene expression are typically reprogrammed during plant gametogenesis and directly after fertilization. Nevertheless, environmentally induced epigenetic marks on genes can be transmitted across generations. Moreover, epigenetic information installed on early embryonic chromatin can be stably inherited during subsequent growth and influence how plants respond to environmental conditions much later in development. Here, we review recent breakthroughs towards deciphering mechanisms underlying epigenetic reprogramming and transcriptional priming during early plant embryogenesis.

We report the familial occurrence of a severe phenotype of central serous chorioretinopathy (CSC). A 62-year-old man was referred to our institute to treat a macular lesion in his right eye. Best-corrected visual acuity (BCVA) in his right eye was 0.05 (decimal format). On the initial visit, swept-source optical coherence tomography (SS-OCT) demonstrated subretinal hyperreflective material (SHRM) and subretinal fluid involving the central macula in the right eye and a descending tract on fundus autofluorescence (FAF) in the left eye, and fluorescein angiography revealed focal leakage corresponding to choroidal vascular hyperpermeability (CVH) on indocyanine green angiography (ICGA) of the right eye. He received photodynamic therapy (PDT) for the right eye and exudation disappeared. His 66-year-old elder brother had a medical history of CSC in both eyes and had received treatment at our hospital at 61 years old. On the initial presentation, ICGA showed multiple CVH in both eyes, and FAF showed hypofluorescence corresponding to retinal pigment epithelium (RPE) tears and RPE atrophy in both eyes. Bullous retinal detachment (RD) developed inferiorly in both eyes, and a vitrectomy was performed for the right eye to repair RD. The baseline BCVA was 0.3 in both eyes. Two years after the initial visit, recurrent serous RD developed in his left eye, and multiple PDT sessions were performed during the six-year follow-up. A severe phenotype of CSC may be associated with a genetic background.

KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies\' clinical features are often overlapped despite differing in phenotype severity. Besides KIAA0586, HYLS1 and KIF7 are also known for being causative of ciliopathies, indicating that all three genes may have similar or converging genomic pathways. Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this group of disorders\' molecular pot. In this case report we discuss the first Brazilian individual clinically diagnosed with hydrolethalus syndrome and molecular findings that demonstrate the role of KIAA0586 as a causative gene of a group of genetic disorders. Also, recent reports on individuals with intronic and exonic variants combined leading to ciliopathies support our patient\'s molecular diagnosis. At the same time, we discuss variable expressivity and overlapping features in ciliopathies.

Spodoptera frugiperda is a significant global pest, and chlorantraniliprole (CAP) is extensively used in China for its control. Understanding CAP resistance in S. frugiperda is crucial for effective management of this pest. Field populations exhibited varying degrees of resistance to CAP (RR = 1.74-5.60-fold). After 10 generations of selection, the CAP-resistant strain developed over 10-fold resistance, with a realized heritability (h2) of 0.10. Genetic analysis reveals inheritance patterns as autosomal, incomplete recessive, and monofactorial. The CAP-resistant strain showed limited cross-resistance to lufenuron and tetrachlorantraniliprole, negative cross-resistance to spinetoram, and no observed cross-resistance to other insecticides. Biochemical analysis suggested that P450-mediated detoxification is the primary resistance mechanism, with 26 genes overexpressed in the CAP-resistant strain. Additionally, the knockdown of CYP4L13, CYP6B39, CYP6B40, and CYP4G74 significantly increased the sensitivity of the resistant larvae to CAP. These findings highlight the resistance risk of CAP in S. frugiperda and emphasize the crucial role of P450 enzymes in resistance.

BACKGROUND: Brachycephalic obstructive airway syndrome (BOAS), observed in many flat-faced dog breeds, is one of the most urgent welfare problems in pedigree dogs. Various breeding schemes against BOAS have been implemented in many countries during recent years, but their impact on breed health remains unknown. The BOAS breeding test, used by the Finnish Kennel Club (FKC), includes an exercise component with a recovery assessment, BOAS grading by a veterinarian that evaluates upper respiratory signs before and after exercise, and a nostril stenosis assessment. The aim of our study was to evaluate BOAS breeding test results and estimate the heritability of the BOAS grade using parent-offspring regression from FKC data collected during 2017-2022.
RESULTS: The majority (80%) of dogs (n = 957) participating in FKC BOAS testing were English Bulldogs, French Bulldogs, and Pugs. In 2022, 89-100% of the litters from these three breeds registered with the FKC had at least one parent tested for BOAS. The proportion of dogs failing the exercise test was highest in English Bulldogs (11%), followed by French Bulldogs (4%) and Pugs (3%). In these three breeds, moderate to severe BOAS signs were reported in 28%, 22% and 30% of dogs, respectively. The proportion of moderate to severe nostril stenosis was highest (71%) in Pugs, followed by French Bulldogs (55%), and English Bulldogs (40%). Estimates of heritability for BOAS grade were separately calculated for these three breeds and for all dogs, and the estimates were moderate to high, ranging from 0.39 to 0.58.
CONCLUSIONS: The exercise test alone did not sufficiently identify dogs with moderate to severe BOAS signs. To better consider the complex nature of BOAS and breed differences, exercise tolerance, the severity of upper respiratory signs (BOAS grade) and nostril stenosis should all be assessed together in breeding animals. The heritability estimates for veterinary-assessed BOAS grade indicated that BOAS grade could be used in selective breeding to obtain less-affected offspring.