Unrelated Females Research Articles

LIMB GIRDLE MUSCULAR DYSTROPHIES: P.150 Four individuals with a homozygous mutation in exon 1f of the PLEC gene and associated myasthenic features

Mutations in the PLEC gene have been associated with multiple phenotypes depending on the location of the mutation and isoform affected. A phenotype of autosomal recessive limb-girdle muscular dystrophy [LGMDR17 plectin-related(MIM613723)] was previously reported in three consanguineous Turkish families carrying an homozygous mutation c.1_9del in exon 1f. We identified the known homozygous c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result in high morbidity and mortality. With ~140,000 live births annually in Ohio and ~1 in 9,000 overall prevalence of MtDs, we estimate 2 to 3 newborns will have PDCD and 13 to 14 others likely will have another MtD annually. We compared the sensitivities of plasma amino acids (AA) Alanine (Ala), Alanine:Leucine (Ala:Leu), Alanine:Lysine and the combination of Ala:Leu and Proline:Leucine (Pro:Leu), in subjects with known primary‐specific PDCD due to PDHA1 and PDHB mutations vs controls. Furthermore, in collaboration with the Ohio newborn screening (NBS) laboratory, we determined Ala and Pro concentrations in dried blood spot (DBS) specimens using existing NBS analytic approaches and evaluated Ala:Leu and Pro:Leu ratios from DBS specimens of 123,414 Ohio newborns in a 12‐month period. We used the combined Ala:Leu ≥4.0 and Pro:Leu ≥3.0 ratio criterion from both DBS and plasma specimens as a screening tool in our retrospective review of newborn data. The screening tool applied on DBS and/or plasma (or serum) AA specimens successfully identified three unrelated females with novel de novo PDHA1 mutations, one male with a novel de novo X‐linked HSD17B10 mutation, and a female with VARS2 mutations. This work lays the first step for piloting an NBS protocol in Ohio for identifying newborns at high risk for primary‐specific PDCD and other MtDs who might benefit from neonatal diagnosis and early institution of known therapy and/or potential novel therapies for such disorders.

Age and sex differences in juvenile bonobos in party associations with their mothers at Wamba.

Mothers are the most fundamental individuals for the survival and development of their immature offspring. Sex-biased dispersal has an effect on strong and long-lasting social bonding between mothers and their philopatric offspring. Nepotistic relationships are often seen in species with male-biased dispersal but less frequently in species with female-biased dispersal. Bonobos are unique among female-biased dispersal primates in that the females are codominant with males, exert influence on the mating opportunities of their mature sons, and tolerate each other regardless of relatedness. Few studies on bonobos have examined sex differences in social relationships between juveniles and their mothers, and how this relates to mother-son and female-female cooperative relationships amongst adults. We investigated whether the association index of juveniles with their mothers changed with age depending on the sex of the juveniles in parties of bonobos at Wamba, the Democratic Republic of the Congo. We found that female bonobos had decreased party associations with their mothers prior to their emigration from the natal group, while male bonobos maintained relatively high party associations with their mothers. These results indicate that sex differences that emerge during the juvenile period in bonobos in their spatial relationships with their mothers differ from previous findings on chimpanzees, spider monkeys, and muriquis, in which philopatric sons tend to spend less time in proximity to their mothers and disperse earlier than, or at a similar age to, daughters. The contrasts between bonobos and other primate species suggest that the high social status of female bonobos relative to that of males mayfacilitate the extension of maternal support for their philopatric sons, and that high tolerance among unrelated females mayenable the spatial independence of daughters from their mothers at an earlier stage.

Genetic patterns of repeat and multiple parasitism by screaming cowbirds, a specialist brood parasite

Avian brood parasites lay their eggs in the nests of other species, leaving the hosts to care for the parasitic offspring. The bookkeeping hypothesis predicts that, in order to reduce competition between parasitic nestlings, female parasites should keep a mental inventory of host nests that they have already parasitized and avoid laying multiple eggs in the same host nest. However, selection against repeat parasitism should be weaker when host nests are limited, or when hosts are able to rear more than one parasitic nestling. Here we use microsatellite genotyping of parasitic eggs to test whether female screaming cowbirds, Molothrus rufoaxillaris, avoid repeatedly parasitizing nests of their primary host, the greyish baywing, Agelaioides badius, in Argentina. Parasitism rates were extremely high (96.5% of 57 host clutches were parasitized with an average of 5.7 cowbird eggs each), indicating that host nests are limited. Although eggs laid by the same female showed moderate spatiotemporal clustering, individual females rarely laid more than one egg in the same host clutch (2 of 57 clutches, 26 of which contained multiple genotyped cowbird eggs). Females were much more likely to lay subsequent eggs in different host nests than to return to the same host nest. We found no evidence for kin structure among female cowbirds parasitizing the same host nest, which were no more closely related than chance would predict. These results suggest that female screaming cowbirds frequently lay eggs in host nests that have already been parasitized by unrelated females. However, they typically lay just one egg per host clutch, even though greyish baywings are capable of rearing several nestlings. Since screaming cowbird laying is often poorly synchronized with that of their host, avoidance of repeat parasitism may be adaptive if it allows females to spread the risk of failure among multiple host nests.

Adolescent and young adult male chimpanzees form affiliative, yet aggressive, relationships with females

Primates frequently form affiliative relationships that have important fitness consequences. Affiliative relationships between unrelated males and females are ubiquitous in humans but are not widely reported in humans' closest living relatives, chimpanzees (Pan troglodytes). Instead, adult male chimpanzees are extremely aggressive to females, using the aggression to coerce females to mate with them. Adolescent male chimpanzees are physically and socially immature and unable to use aggression toward females in the same way as adult males. Instead, adolescent males might build affiliative relationships with females as an alternative tactic to increase their chances of mating and reproducing. To investigate this possibility, we recorded social interactions between 20 adolescent and 10 young adult males and 78 adult female chimpanzees over 2 years at Ngogo in Kibale National Park, Uganda. Analyses using grooming and proximity as assays revealed that adolescent and young adult males formed differentiated, affiliative relationships with females. These relationships were as strong as the bonds young males formed with maternal kin and unrelated males and increased in strength and number as males aged and started to dominate females. Male-female relationships extended outside the immediate context of mating. Although males affiliated slightly more often with females when they were cycling, they also did so when females were pregnant and nursing young infants. Males and females who formed bonds reassured each other, looked back and waited for each other while traveling, and groomed more equitably than other male-female pairs, even after the time they spent together in association and the female's reproductive state were taken into account. Despite the affiliative nature of these relationships, adolescent and young adult males selectively targeted their female partners for aggression. These findings provide new insights into the evolution of social bonds between human females and males, which can involve both affiliation and coercive violence.

Intermittent breeding is associated with breeding group turnover in a cooperatively breeding bird.

Intermittent breeding, in which an adult skips a breeding opportunity, can represent a non-adaptive constraint or an adaptive response to the tradeoff between current and future reproduction. In group-living animals, the social group may also affect the frequency of reproduction, but this possibility has received little attention. Here we use an 11-year data set to investigate intermittent breeding in the greater ani (Crotophaga major), a tropical bird that nests in stable breeding groups containing several unrelated co-breeding females. Population-wide, an average of 62% of females laid eggs in a given year (range 35-84%), and the average female failed to lay eggs once every 3.2years. We found little support for the hypothesis that intermittent breeding reflects a tradeoff between current and future reproduction: breeding in year t did not affect a female's likelihood of breeding in year t + 1, and clutch size in year t did not affect clutch size in year t + 1. Increases in clutch size were associated with decreases in egg mass for eggs laid at the end of that clutch, but this did not affect subsequent nesting attempts. However, reproductive skipping was associated with changes in group membership. Females whose groups changed in composition after year t were significantly less likely to breed in year t + 1 than females whose groups remained stable. These results indicate that breeding group stability influences the frequency of reproduction, suggesting that transitions between groups may be costly to females and their mates.

Home range establishment and the mechanisms of philopatry among female Bornean orangutans (Pongo pygmaeus wurmbii) at Tuanan

Female orangutans exhibit natal philopatry, living in stable home ranges that overlap with those of their maternal relatives. Using data collected from 2003 to 2017 at Tuanan in Central Kalimantan, Indonesia, we take a longitudinal approach to better understand the mechanisms of female philopatry and the factors that influence the home range establishment process of young female orangutans (Pongo pygmaeus wurmbii). Data on movement and sociality were collected during nest-to-nest focal follows of individual orangutans; four young nulli/primiparous females, their three multiparous mothers, and seven other unrelated adult females living in the same area. Our results show that a young female goes through an ‘exploration phase’, beginning when she is an independent immature and lasting through her adolescence, characterized by an increase in home range size and distance travelled each day. This exploration is facilitated by high resource availability and association with adult males. A young female maintains a high degree of overlap with her natal range but gradually decrease the degree of overlap with her mother’s concurrent range. By the time she is a sexually active adolescent, a young female and her mother share as much overlap as a young female does with other related adult females, although she continues to associate more with her mother than with them, even after the birth of her first offspring. Our findings indicate that the high habitat productivity and high orangutan population density of Tuanan lead to a high degree of life-time site fidelity and overlap among maternal kin. The mechanisms of philopatry and the process of home range establishment among solitary animals with slow life histories are difficult to study and poorly understood for most species. We investigated this process among female Bornean orangutans, using a unique long-term data set comprising 15 years of social and spatial data. We analysed changes in the ranging and association patterns of young female orangutans as they developed, matured and became mothers. We found that females went through a post-dependence phase of exploration characterized by an increase in range size and day journey length, and then settled into home ranges that overlapped highly with their mothers and other female kin, though they associated preferentially with their mothers. Our results illuminate the extreme long-term site fidelity of these female orangutans and emphasize the ecological and social importance of female philopatry among orangutans.

Changes in corneal biomechanics during pregnancy in Chinese healthy female

To evaluate the changes of corneal biomechanics and the intraocular pressure during pregnancy in a Chinese healthy female population. A total of 222 unrelated Chinese females were recruited: 52 non-pregnant, 15 pregnant in the first trimester, 68 pregnant in the second trimester, and 87 pregnant in the third trimester. The intraocular pressure and corneal biomechanical parameters, including corneal-compensated intraocular pressure, Goldmann-correlated intraocular pressure, corneal hysteresis, and corneal resistance factor, were measured by an Ocular Response Analyzer G3. Central corneal thickness was measured by Lenstar (LS900). Corneal hysteresis and corneal resistance factor were significantly higher in pregnant women at the second and third trimesters. Corneal-compensated intraocular pressure was lower in women at the third trimester of pregnancy (p = 0.023), but the difference became insignificant after adjustment for corneal hysteresis. Central corneal thickness was marginally higher in pregnant women than non-pregnant women (p = 0.032). There was a negative correlation between corneal-compensated intraocular pressure and corneal hysteresis (r = -0.337, p < 0.001) and a positive correlation between central corneal thickness and corneal hysteresis (r = 0.711, p < 0.0001). After adjustment for corneal-compensated intraocular pressure, corneal hysteresis remained significantly higher in the second and third trimesters of pregnant women than non-pregnant women (p = 0.031, p = 0.005). This study revealed a significant increase in corneal hysteresis and corneal resistance factor in the second and third trimesters. The increase of corneal hysteresis was independent of corneal-compensated intraocular pressure, indicating pregnant females have unique characteristics in corneal-compensated intraocular pressure and corneal biomechanical properties that may be related to glaucoma and corneal ectatic diseases in pregnancy.

TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

The transcription factor for immunoglobulin heavy-chain enhancer 3 (TFE3) gene encodes a transcription factor that regulates embryonic stem cell (ESC) differentiation. Its phosphorylation by the lysosomal Rag GTPase signaling pathway leads to cytoplasmic sequestration and inactivation promoting ESC differentiation and exit from pluripotency. Somatic translocations of this X-linked gene cause papillary renal cell carcinoma in which nuclear accumulation of the TFE3 oncoprotein is one of the most significant histopathologic characteristics. Early this year, Villegas et al. identified missense mutations in a TFE3 domain required for cytoplasmic inactivation as potentially causal for a mosaic human developmental disorder. They published five patients with de novo TFE3 nonsynonymous missense variants, four females and one male, with severe intellectual disability (5/5), coarse facial features (4/5), and Blaschkoid pigmentary mosaicism (4/5). The only male described has somatic mosaicism. All patients had normal brain Magnetic Resonance Imagings (MRIs). We present two unrelated females with this distinctive phenotype including the above triad along with other features not previously well described. Both were found to have de novo heterozygous variants in TFE3 on whole exome sequencing, one nonsynonymous missense, and one canonical splice site variant, thereby expanding the phenotypic and mutational spectrum for this disorder. Interestingly, due to significant coarsening of the facial features, both patients were initially thought to have a lysosomal storage disorder but enzyme screening and brain MRIs were negative.

Bonobo personality predicts friendship

In bonobos, strong bonds have been documented between unrelated females and between mothers and their adult sons, which can have important fitness benefits. Often age, sex or kinship similarity have been used to explain social bond strength variation. Recent studies in other species also stress the importance of personality, but this relationship remains to be investigated in bonobos. We used behavioral observations on 39 adult and adolescent bonobos housed in 5 European zoos to study the role of personality similarity in dyadic relationship quality. Dimension reduction analyses on individual and dyadic behavioral scores revealed multidimensional personality (Sociability, Openness, Boldness, Activity) and relationship quality components (value, compatibility). We show that, aside from relatedness and sex combination of the dyad, relationship quality is also associated with personality similarity of both partners. While similarity in Sociability resulted in higher relationship values, lower relationship compatibility was found between bonobos with similar Activity scores. The results of this study expand our understanding of the mechanisms underlying social bond formation in anthropoid apes. In addition, we suggest that future studies in closely related species like chimpanzees should implement identical methods for assessing bond strength to shed further light on the evolution of this phenomenon.

Risk Factor Analysis for Breast Cancer in Premenopausal and Postmenopausal Women of Punjab, India.

Objective:Amritsar, the second largest town of agrarian state of Punjab, India reports high number of breast cancer cases every year. The present study investigated the etiology of breast cancer using various obesity indices and other epidemiological factors among breast cancer patients residing in and around Amritsar city. Methods:In this case control study, risk factors for breast cancer were analyzed in 542 female subjects: 271 females with breast cancer patients and 271 unrelated healthy females matched for age as control females. Results:Bivariate analysis for risk factors in cases and controls showed a lower risk (OR=0.65, 95% CI 0.43-0.99, p=0.04) in obese cases with BMI≥25kg/m2 as compared to subjects with normal BMI. Risk factor analysis showed that parameter which provided risk for cancer in postmenopausal women was obesity and in premenopausal women was parity. Postmenopausal women with BMI (overweight: OR=0.39, 95% CI 0.17-0.92, p=0.03; obese: OR= 0.26, 95% CI 0.13-0.52, p=0.00), WC (OR=0.17, 95% CI 0.05-0.52, p=0.00) and WHtR (p=0.02) had highr risk. Premenopausal women with 3 or less than 3 children had a higher risk (OR=5.54, 95 % CI 2.75-11.19, p=0.00) than postmenopausal women when compared to women with more than 3 children. Binary logistic regression analysis revealed that low parity (≤3) substantially increased the risk for breast cancer (OR=4.80, 95% CI 2.34-9.85, p=0.00) in premenopausal women. Conclusion:Obesity, parity associated breast cancer risk and reduced breastfeeding cumulatively predispose the premenopausal women of this region to higher risk of breast cancer.

Communally breeding female Barn Owls Tyto alba are not related and do not invest similarly in the communal family

ABSTRACTWe report detailed information about relatedness and parental investment in a communal nest in the Barn Owl Tyto alba. Two unrelated females laid their eggs in a single nest cup and successfully raised 4 nestlings out of 11 laid eggs. Apparently, the yearling female did not incubate the eggs and only occasionally hunted for the brood, in contrast to the older female which invested more effort in parental care.

Postnatal care generates phenotypic behavioural correlations in the Japanese quail

Behavioural phenotypes can be highly constrained by interdependent behavioural traits. Studies in different taxa showed that these behavioural phenotypic correlations are not universal within a species and can differ between populations exposed to different environmental pressures. Empirical studies are required to better understand the relative contributions of long-term adaptive processes and direct ontogenetic mechanisms in the development of these phenotypic behavioural correlations. In the present study, we investigated the role of postnatal nurturing care on the development of behavioural correlations in a precocial bird model, the Japanese quail (Coturnix coturnix japonica). We compared phenotypic correlations between two populations: 41 artificially reared birds (maternally deprived) and 36 birds fostered by unrelated females. Behavioural responses were measured at the age when birds naturally disperse, with three widely used behavioural tests to assess fearfulness and sociality: tonic immobility, open-field and emergence tests. Our results show that when quail chicks are reared by a foster mother, more phenotypic correlations appeared in the population including correlations within and across behavioural functions and between behavioural responses and chick mass. In contrast, chicks reared without a foster mother presented much fewer behavioural correlations and those were limited to functionally linked behaviours. Our results also highlight that the effect of mothering on phenotypic correlations is sex-specific, with a greater effect on males. We discuss the organisational role of parents on the development of behavioural correlations, the mechanisms likely to support this influence, as well as the reasons for sexual dimorphism. Mothers deeply influence the behavioural development of their offspring during the postnatal stage. Whether maternal presence and nurturing behaviour also affect correlations between behavioural responses of their offspring at a population level remains underexplored and unclear. In the current study, we used an adoption procedure to demonstrate the critical role of maternal postnatal care for the development of behavioural correlations in a precocial bird model widely used for the study of behavioural ontogeny: the Japanese quail. Our findings highlight that the presence of a maternally behaving female during early life promotes the development of correlations between behavioural responses both within and across behavioural functions in males but not in females.

SUN-284 DICER1 Mutations in Adolescent Girls: Clinicopathological Findings and Genetic Correlation

Background: The DICER1 syndrome is a rare tumor predisposition disorder associated with multinodular goiter (MNG), differentiated thyroid cancer, ovarian Sertoli-Leydig cell tumor, pleuropulmonary blastoma and pituitary blastoma (1,2). The DICER1 gene encodes the endoribonuclease protein of the ribonuclease III family which acts post-transcriptionally to downregulate messenger RNAs. Both germline and somatic mutations have been reported (3). We describe 2 previously healthy unrelated females referred for evaluation of thyroid nodules. Cases:Case 1: A 16yo female presented with spontaneous passage of polyps at her menstrual period. Histologic analysis revealed embryonal rhabdomyosarcoma. Her primary malignancy, confined to the cervix, was treated with surgical resection followed by chemotherapy. Staging evaluation revealed a left thyroid nodule. FNA of the nodule showed follicular patterned lesion with cytologic atypia; molecular testing was positive for DICER1 somatic mutation (c.5429A;p.D1810V). Peripheral blood genetic testing was positive for a heterozygous DICER1 germline mutation (1510-1G>A). She underwent left lobectomy; histology showed encapsulated papillary carcinoma. Case 2: A 13yo female developed a sudden non-tender neck mass. Ultrasound-guided FNA of the solid lesion in the left thyroid lobe revealed atypia of undetermined significance. Molecular studies identified a DICER1 gene mutation (c.5126A>G; p.D1709G). A peripheral blood sample showed heterozygous DICER1 mutation (c.1870C>T;pArg624*). Three 1st degree family members were also positive for the germline mutation. She underwent total thyroidectomy; pathology revealed MNG with a predominant hyperplastic nodule. Conclusion: Two adolescents with thyroid lesions were positive for DICER1 mutations (4). The prevalence of DICER1 mutations, natural history, and extent of phenotypic heterogeneity are unknown. Two mutations, one germline and one somatic, were identified in our patients. Enhanced molecular testing (ThyroSeqv3) is now available to identify mutations. Testing thyroid nodules for DICER1 mutations (5-7), followed by screening for germline mutations in positive cases is essential to identify patients at risk of other manifestations and to ensure surveillance. Scrutiny of cases will help elucidate the natural history of DICER1 syndrome and establish guidelines regarding the extent and frequency of screening.

Bridging may help young female Tibetan macaques Macaca thibetana learn to be a mother

Attraction to infants is a common feature of non-human primates. Frequent affiliative male-infant interactions have been observed in many multimale, multifemale groups of macaques, including a behaviour termed ‘bridging’ in which two male macaques simultaneously lift an infant. This behaviour has been suggested to serve as a positive affiliative interaction between the adult or subadult males. Female macaques display bridging in the same manner as males, but the function of this behaviour to females remains unknown. In this study, we examined evidence for the function and evolution of bridging in female Tibetan macaques within the framework of three hypotheses: the learning to mother, a side-effect of selection for appropriate maternal care, and alliance formation hypotheses. Our results showed that subadult females initiated more bridging than adult females. Females preferred to use infants for bridging when the infants were less than four weeks old. Female frequency of received bridging with higher-ranking females was not significantly different from their frequency of received bridging with lower-ranking females. Bridging frequency was not significantly different between dyads composed of related and unrelated females. Additionally, post-bridging grooming frequency was significantly higher than nonbridging grooming interactions, suggesting a social function for bridging. The results of our study supported the ‘learning to mother’ hypothesis, suggesting that bridging among female intrasexual dyads is a multi-functional, complex and differential evolutionary process.

Brood parasitism, relatedness and sociality: a kinship role in female reproductive tactics.

Conspecific brood parasitism (CBP) is a reproductive tactic in which parasitic females lay eggs in nests of other females of the same species that then raise the joint brood. Parasites benefit by increased reproduction, without costs of parental care for the parasitic eggs. CBP occurs in many egg-laying animals, among birds most often in species with large clutches and self-feeding young: two major factors facilitating successful parasitism. CBP is particularly common in waterfowl (Anatidae), a group with female-biased natal philopatry and locally related females. Theory suggests that relatedness between host and parasite can lead to inclusive fitness benefits for both, but if host costs are high, parasites should instead target unrelated females. Pairwise relatedness (r) in host-parasite (h-p) pairs of females has been estimated using molecular genetic methods in seven waterfowl (10 studies). In many h-p pairs, the two females were unrelated (with low r, near the local population mean). However, close relatives (r = 0.5) were over-represented in h-p pairs, which in all 10 studies had higher mean relatedness than other females. In one species where this was studied, h-p relatedness was higher than between nesting close neighbours, and hosts parasitized by non-relatives aggressively rejected other females. In another species, birth nest-mates (mother-daughters, sisters) associated in the breeding area as adults, and became h-p pairs more often than expected by chance. These and other results point to recognition of birth nest-mates and perhaps other close relatives. For small to medium host clutch sizes, addition of a few parasitic eggs need not reduce host offspring success. Estimates in two species suggest that hosts can then gain inclusive fitness if parasitized by relatives. Other evidence of female cooperation is incubation by old eider Somateria mollissima females of clutches laid by their relatives, and merging and joint care of broods of young. Merging females tended to be more closely related. Eiders associate with kin in many situations, and in some geese and swans, related females may associate over many years. Recent genetic evidence shows that also New World quails (Odontophoridae) have female-biased natal philopatry, CBP and brood merging, inviting further study and comparison with waterfowl. Kin-related parasitism also occurs in some insects, with revealing parallels and differences compared to birds. In hemipteran bugs, receiving extra eggs is beneficial for hosts by diluting offspring predation. In eggplant lace bugs Gargaphia solani, host and parasite are closely related, and kin selection favours egg donation to related females. Further studies of kinship in CBP, brood merging and other contexts can test if some of these species are socially more advanced than presently known.

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

BackgroundThe link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or focal seizures with or without fever sensitivity. The clinical manifestation of the condition ranges from mild to severe, resulting in intellectual disability and behavioural disturbance. In the present study, we assessed mutations in the PCDH19 gene and the clinical features of a group of Chinese patients with early infantile epileptic encephalopathy and aimed to provide further insight into the understanding of epilepsy and mental retardation limited to females (EFMR; MIM 300088).Case PresentationWe described three variations in the PCDH19 gene in Chinese patients with epilepsy who developed generalized seizures occurring in clusters with or without triggering by fever. Candidate genes were screened for mutations that cause epilepsy and related paroxysmal or nervous system diseases in the coding exons and intron–exon boundaries using polymerase chain reaction (PCR) of genomic deoxyribonucleic acid (DNA) followed by sequencing. The variations were sequenced using next-generation sequencing technology and verified with first-generation sequencing. Exome sequencing of a multigene epilepsy panel revealed three mutations in the PCDH19 gene in a mosaic male and two unrelated females. These included a frameshift mutation c.1508_1509insT (p.Thr504HisfsTer19), a missense mutation c.1681C > T (p.Pro561Ser) and a nonsense mutation c.918C > G (p.Tyr306Ter). Of the three mutations in the PCDH19 gene associated with early infantile epileptic encephalopathy, the frameshift variation in a mosaic male is novel and de novo, the missense variation is de novo and is the second ever reported in females, and the nonsense variation was inherited from the paternal line and is the first example discovered in a female.ConclusionsThe results from our current study provide new insight into and perspectives for the molecular genetic link between epilepsy and PCDH19 alterations. Moreover, our new findings of the male mosaic variant broaden the spectrum of PCDH19-related epilepsy and provide a new understanding of this complex genetic disorder.

Characterization of Chemical Constituents of Human Sweat: A Study Based on Indian Population.

There is a strong evidence in the literature that human odor is unique to an individual; therefore, the focus of this study was to strengthen this evidence through the testing of sweat samples on unrelated individuals with the same ethnicity. Sweat samples were collected from 42 unrelated Indian males and females residing in the same city to determine the chemical constituents in human sweat. The volatile compounds of sweat were subsequently analyzed and identified using gas chromatography-mass spectrometry, and a National Institute of Standards and Technology library was used for individual profiling. A total of 78 compounds were identified in human sweat tested with 22 compounds found to be unique to the individual (frequency of occurrence one). A scent profile, or "chexmotype," unique to the sweat of each individual was obtained. This is the first extensive study on an Indian population with 36 new compounds detected in human sweat.

Is birth attendance a uniquely human feature? New evidence suggests that Bonobo females protect and support the parturient

Abstract Birth attendance has been proposed as a distinguishing feature of humans ( Homo sapiens ) and it has been linked to the difficulty of the delivery process in our species. Here, we provide the first quantitative study based on video-recordings of the social dynamics around three births in captive bonobos ( Pan paniscus ), human closest living relative along with the chimpanzee. We show that the general features defining traditional birth attendance in humans can also be identified in bonobos. As in humans, birth in bonobos was a social event, where female attendants provided protection and support to the parturient until the infant was born. Moreover, bystander females helped the parturient during the expulsive phase by performing manual gestures aimed at holding the infant. Our results on bonobos question the traditional view that the obligatory need for assistance was the main driving force leading to sociality around birth in our species. Indeed, birth in bonobos is not hindered by physical constraints and the mother is self-sufficient in accomplishing the delivery. Although further studies are needed both in captivity and in the wild, we suggest that the similarities observed between birth attendance in bonobos and humans might be related to the high level of female gregariousness in these species. In our view, the capacity of unrelated females to form strong social bonds and cooperate could have represented the evolutionary pre-requisite for the emergence of human midwifery.

Sex differences in the drivers of reproductive skew in a cooperative breeder

Many cooperatively breeding societies are characterized by high reproductive skew, such that some socially dominant individuals breed, while socially subordinate individuals provide help. Inbreeding avoidance serves as a source of reproductive skew in many high-skew societies, but few empirical studies have examined sources of skew operating alongside inbreeding avoidance or compared individual attempts to reproduce (reproductive competition) with individual reproductive success. Here, we use long-term genetic and observational data to examine factors affecting reproductive skew in the high-skew cooperatively breeding southern pied babbler (Turdoides bicolor). When subordinates can breed, skew remains high, suggesting factors additional to inbreeding avoidance drive skew. Subordinate females are more likely to compete to breed when older or when ecological constraints on dispersal are high, but heavy subordinate females are more likely to successfully breed. Subordinate males are more likely to compete when they are older, during high ecological constraints, or when they are related to the dominant male, but only the presence of within-group unrelated subordinate females predicts subordinate male breeding success. Reproductive skew is not driven by reproductive effort, but by forces such as intrinsic physical limitations and intrasexual conflict (for females) or female mate choice, male mate-guarding and potentially reproductive restraint (for males). Ecological conditions or "outside options" affect the occurrence of reproductive conflict, supporting predictions of recent synthetic skew models. Inbreeding avoidance together with competition for access to reproduction may generate high skew in animal societies, and disparate processes may be operating to maintain male vs. female reproductive skew in the same species.