Exploring key genes and pathways associated with sex differences in autism spectrum disorder: integrated bioinformatic analysis.

Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder marked by functional abnormalities in brain that causes social and linguistic difficulties. The incidence of ASD is more prevalent in males compared to females, but the underlying mechanism, as well as molecular indications for identifying sex-specific differences in ASD symptoms remain unknown. Thus, impacting the development of personalized strategy towards pharmacotherapy of ASD. The current study employs an integrated bioinformatic approach to investigate the genes and pathways uniquely associated with sex specific differences in autistic individuals. Based on microarray dataset (GSE6575) extracted from the gene expression omnibus, the dysregulated genes between the autistic and the neurotypical individuals for both sexes were identified. Gene set enrichment analysis was performed to ascertain biological activities linked to the dysregulated genes. Protein-protein interaction network analysis was carried out to identify hub genes. The identified hub genes were examined to determine their functions and involvement in the associated pathways using Enrichr. Additionally, hub genes were validated from autism-associated databases and the potential small molecules targeting the hub genes were identified. The present study utilized whole blood transcriptomic gene expression analysis data and identified 2211 and 958 differentially expressed unique genes in males and females respectively. The functional enrichment analysis revealed that male hub genes were functionally associated with RNA polymerase II mediated transcriptional regulation whereas female hub genes were involved in intracellular signal transduction and cell migration. The top male hub genes exhibited functional enrichment in tyrosine kinase signalling pathway. The pathway enrichment analysis of male hub genes indicates the enrichment of papillomavirus infection. Female hub genes were enriched in androgen receptor signalling pathway and functionally enriched in focal adhesion specific excision repair. Identified drug like candidates targeting these genes may serve as a potential sex specific therapeutics. Wortmannin for males, 5-Fluorouracil for females had the highest scores. Targeted and sex-specific pharmacotherapies may be created for the management of ASD. The current investigation identifies sex-specific molecular signatures derived from whole blood which may serve as a potential peripheral sex-specific biomarkers for ASD. The study also uncovers the possible pharmacological interventions against the selected genes/pathway, providing support in development of therapeutic strategies to mitigate ASD. However, experimental proofs on biological systems are warranted.

Anti-predator strategies of adult male Central Himalayan Langurs (Semnopithecus schistaceus) in response to domestic dogs in a human-dominated landscape.

The evolution of predator-prey relationships is an important topic in primatology. Many aspects of primate society have been explained as a response to predation pressure. While predation has been discussed in broad theoretical terms, few systematically collected data exist on the subject. Furthermore, little information exists regarding the inter-male variation in responses to predators. To address this data gap, predatory dog-primate interactions were studied in a 78-member group of habituated, individually recognized Central Himalayan Langurs (CHL) (Semnopithecus schistaceus) living in a high-altitude subsistence agricultural landscape of northern India. We recorded 312 langur-dog interactions over 2 years. These predation events resulted in 15 serious attacks on adult females, infants, juveniles and sub-adults, in eight of which the prey was killed and consumed on the spot. In response to dog predation, adult males performed three types of anti-predator response behaviors: direct fighting with a predator, emitting alarm calls, fleeing and/or freezing. Differences were noted in each male's response to village dogs. The results showed that the likelihood of CHL adult males engaging in more costly counterattacks or attention getting alarm calls were better predicted by the level of investment in the group (genetic relatedness, duration of residency, social relationships), but not rank and mating rate. Long-duration resident adult males performed high and/or intermediate cost behaviors to protect vulnerable members of the group; their potential offspring, maternal siblings or cousins, and adult female social partners. Short-term residents or recent immigrant males exhibited two less energetically costly, more self-preserving behaviors, depending on their rank: (1) high-ranking short-tenure duration males, with high mating frequencies, performed flee and freeze responses; (2) low-ranking, low-mating-frequency males performed more alarm calls. Counterattacks and alarm calls were performed by adult males with relatively more experience with village dogs and were directed towards dogs with predatory histories significantly more often than dogs with non-predatory histories. Natural selection and kin selection have both contributed to the evolution of CHL anti-predator tactics.

Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.

Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting females in their reproductive age. The early diagnosis of PCOS is complicated and complex due to overlapping symptoms of this disease. The most accepted diagnostic approach today is the Rotterdam Consensus (2003), which supports the positive diagnosis of PCOS when patients present two out of the following three symptoms: biochemical and clinical signs of hyperandrogenism, oligo, and anovulation, also polycystic ovarian morphology on sonography. Genetic variance, epigenetic changes, and disturbed lifestyle lead to the development of pathophysiological disturbances, which include hyperandrogenism, insulin resistance, and chronic inflammation in PCOS females. At the molecular level, different proteins and molecular and signaling pathways are involved in disease progression, which leads to the failure of a single genetic diagnostic approach. The genetic approach to elucidate the mechanism of pathogenesis of PCOS was recently developed, whereby four phenotypic variances of PCOS categorize PCOS patients into classic, ovulatory, and non-hyperandrogenic types. Genetic studies help to identify the root cause for the development of this PCOS. PCOS genetic inheritance is autosomal dominant but the latest investigations revealed it as a multigene origin disease. Different genetic loci and specific genes have been identified so far as being associated with this disease. Genome-wide association studies (GWAS) and related genetic studies have changed the scenario for the diagnosis and treatment of this reproductive and metabolic condition known as PCOS. This review article briefly discusses different genes associated directly or indirectly with disease development and progression.

Description of Enterobius (Colobenterobius) emodensis sp. n. (Nematoda: Oxyuridae) collected from Central Himalayan langur, Semnopithecus schistaceus, in Uttarakhand, India.

A new pinworm species, Enterobius (Colobenterobius) emodensis sp. n. (Nematoda: Oxyuridae) is described from the Central Himalayan langur, Semnopithecus schistaceus, in Mandal Valley, Chamoli District, Uttarakhand, India, based on mature and immature adults and fourth-stage larvae. This species closely resembles Enterobius (Colobenterobius) zakiri parasitic in Tarai langur, Semnopithecus hector, recorded from Uttarakhand and Uttar Pradesh, India, but is readily distinguished by having a shorter esophagus and a shorter spicule. It is surmised that this pinworm has co-speciated with the host langur. The new species is also characterized in that the posterior 1/3 of the esophageal corpus is much darker. Phylogenetic analysis based on the sequences of partial Cox1 gene of mtDNA suggested a basal position of diversification of Colobenterobius from the Enterobius lineage.

Watering holes: The use of arboreal sources of drinking water by Old World monkeys and apes.

Water is one of the most important components of an animal's diet, as it is essential for life. Primates, as do most animals, procure water directly from standing or free-flowing sources such as pools, ponds and rivers, or indirectly by the ingestion of certain plant parts. The latter is frequently described as the main source of water for predominantly arboreal species. However, in addition to these, many species are known to drink water accumulated in tree-holes. This has been commonly observed in several arboreal New World primate species, but rarely reported systematically from Old World primates. Here, we report observations of this behaviour from eight great ape and Old World monkey species, namely chimpanzee, orangutan, siamang, western hoolock gibbon, northern pig-tailed macaque, bonnet macaque, rhesus macaque and the central Himalayan langur. We hypothesise three possible reasons why these primates drink water from tree-holes: (1) coping with seasonal or habitat-specific water shortages, (2) predator/human conflict avoidance, and (3) potential medicinal benefits. We also suggest some alternative hypotheses that should be tested in future studies. This behaviour is likely to be more prevalent than currently thought, and may have significant, previously unknown, influences on primate survival and health, warranting further detailed studies.