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"Sex characteristics"
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Man and woman : an inside story
\"The saga of sex differences in brain and behavior begins with a tiny sperm swimming toward a huge egg, to contribute its tiny Y chromosome plus its copies of the other chromosomes. Genetic, anatomic and physiologic alterations in the male ensue, making his brain and behavior different in specific respects from his sister. Brain-wise, specific cell groups develop differently in males compared to females, in some cases right after birth and in other cases at puberty. But genetics and neuroanatomy do not dominate the scene. Prenatal stress, postnatal stress and lousy treatment at puberty all can affect males and females in different ways. The upshot of all these genetic and environmental factors produces small sex differences in certain abilities and huge sex differences in feelings, in pain and in suffering. Put this all together and the reader will see that biological and cultural influences on gender roles operate at so many different levels to influence behavioral mechanisms that gender role choices are flexible, reversible and non-dichotomous, especially in modern societies.\"--Book jacket.
New genetic loci link adipose and insulin biology to body fat distribution
2015
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (
P
< 5 × 10
−8
). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Genome-wide association meta-analyses of waist-to-hip ratio adjusted for body mass index in more than 224,000 individuals identify 49 loci, 33 of which are new and many showing significant sexual dimorphism with a stronger effect in women; pathway analyses implicate adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution.
Cardiometabolic traits linked to body fat distribution
In the first of a pair of Articles in this issue from the GIANT Consortium, genome-wide association meta-analyses of waist and hip circumference-related traits in more than 200,000 individuals have been used to identify 49 loci — 33 of them new — associated with waist-to-hip ratio adjusted for body mass index and an additional 19 loci associated with related waist and hip circumference measures. A subset of these loci shows significant sexual dimorphism, with many showing a stronger effect in women. Analyses implicate adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms and offer potential targets for interventions in the risks associated with abdominal fat accumulation.
Journal Article
Pioneer mother monuments : constructing cultural memory
\"Analyzes the ways in which public monuments to early white settlers in the western United States were erected, forgotten, and rediscovered from the late 1880s to the early 21st century in response to western race relations, shifting gender norms, and religious and regional identity\"-- Provided by publisher.
Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances
2019
We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near CDKN2B-AS1, ATXN2/BRAP, FURIN/FES, ZW10, PSORS1C3, and 13q21.31, and identify and replicate novel findings near ABO, ZC3HC1, and IGF2R. We also validate previous findings near 5q33.3/EBF1 and FOXO3, whilst finding contradictory evidence at other loci. Gene set and cell-specific analyses show that expression in foetal brain cells and adult dorsolateral prefrontal cortex is enriched for lifespan variation, as are gene pathways involving lipid proteins and homeostasis, vesicle-mediated transport, and synaptic function. Individual genetic variants that increase dementia, cardiovascular disease, and lung cancer – but not other cancers – explain the most variance. Resulting polygenic scores show a mean lifespan difference of around five years of life across the deciles.
Editorial note: This article has been through an editorial process in which the authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (see decision letter ).
Ageing happens to us all, and as the cabaret singer Maurice Chevalier pointed out, \"old age is not that bad when you consider the alternative\". Yet, the growing ageing population of most developed countries presents challenges to healthcare systems and government finances. For many older people, long periods of ill health are part of the end of life, and so a better understanding of ageing could offer the opportunity to prolong healthy living into old age.
Ageing is complex and takes a long time to study – a lifetime in fact. This makes it difficult to discern its causes, among the countless possibilities based on an individual’s genes, behaviour or environment. While thousands of regions in an individual’s genetic makeup are known to influence their risk of different diseases, those that affect how long they will live have proved harder to disentangle. Timmers et al. sought to pinpoint such regions, and then use this information to predict, based on their DNA, whether someone had a better or worse chance of living longer than average.
The DNA of over 500,000 people was read to reveal the specific ‘genetic fingerprints’ of each participant. Then, after asking each of the participants how long both of their parents had lived, Timmers et al. pinpointed 12 DNA regions that affect lifespan. Five of these regions were new and had not been linked to lifespan before. Across the twelve as a whole several were known to be involved in Alzheimer’s disease, smoking-related cancer or heart disease. Looking at the entire genome, Timmers et al. could then predict a lifespan score for each individual, and when they sorted participants into ten groups based on these scores they found that top group lived five years longer than the bottom, on average.
Many factors beside genetics influence how long a person will live and our lifespan cannot be read from our DNA alone. Nevertheless, Timmers et al. had hoped to narrow down their search and discover specific genes that directly influence how quickly people age, beyond diseases. If such genes exist, their effects were too small to be detected in this study. The next step will be to expand the study to include more participants, which will hopefully pinpoint further genomic regions and help disentangle the biology of ageing and disease.
Journal Article
Fast evolutionary turnover and overlapping variances of sex-biased gene expression patterns defy a simple binary sex classification of somatic tissues
by
Xie, Chen
,
Künzel, Sven
,
Tautz, Diethard
in
Animals
,
Biological Evolution
,
Comparative analysis
2025
Sexual dimorphism in phenotypes is largely driven by genes with sex-biased expression, spanning from key regulators to numerous organ-specific effectors. Current understanding is limited regarding the evolutionary dynamics of these genes in somatic tissues that generate the adult phenotype versus gonadal organs that are required for reproduction. Here, we investigate sex-biased gene expression and micro-evolutionary patterns of these genes in populations of subspecies and species of wild mice (genus Mus ) that were raised under controlled conditions. We find a faster evolutionary turnover of sex-biased gene expression in somatic tissues, but not in the gonads, when compared to the turnover of non-sex-biased genes. We introduce a sex-biased gene expression index (SBI) to quantify individual variances. We find a range from binary to overlapping SBI patterns across individuals. SBI values do not correlate between organs of the same individuals, thus supporting a mosaic model of somatic sex determination. Comparison with data from humans shows mostly fewer sex-biased genes compared to mice and strongly overlapping SBI distributions between the somatic organs of the sexes. We conclude that adult individuals are composed of a mosaic spectrum of sex characteristics in their somatic tissues that should not be cumulated into a simple binary classification.
Journal Article
Sex differences in the brain : from genes to behavior
2008,2007
Sex is a fundamentally important biological variable. Recent years have seen significant progress in the integration of sex in many aspects of basic and clinical research, including analyses of sex differences in brain function. Significant advances in the technology available for studying the endocrine and nervous systems are now coupled with a more sophisticated awareness of the interconnections of these two communication systems of the body. A thorough understanding of the current knowledge, conceptual approaches, methodological capabilities, and challenges is a prerequisite to continued progress in research and therapeutics in this interdisciplinary area. This book provides scientists with the basic tools for investigating sex differences in brain and behavior, and insight into areas where important progress in understanding physiologically relevant sex differences has already been made. The book is arranged in three parts. The first part of the book introduces the study of sex differences in the brain, with an overview of how the brain, stress systems, and pharmacogenetics differ in males and females and how this information is important for the study of behavior and neurobiology of both genders. The second part presents examples of sex differences in neurobiology and behavior from both basic and clinical research perspectives, covering both humans and nonhuman animals. The final part discusses sex differences in the neurobiology of disease and neurological disorders.
Sex/Gender
Sex/Gender presents a relatively new way to think about how biological difference can be produced over time in response to different environmental and social experiences.
This book gives a clearly written explanation of the biological and cultural underpinnings of gender. Anne Fausto-Sterling provides an introduction to the biochemistry, neurobiology, and social construction of gender with expertise and humor in a style accessible to a wide variety of readers. In addition to the basics, Sex/Gender ponders the moral, ethical, social and political side to this inescapable subject.
An interview with the author! WOMR - The Lowdown with Ira Wood - Sex an Gender Identity with Anne Fausto-Sterling: http://www.publicbroadcasting.net/womr/.jukebox?action=viewMedia&mediaId=1025429
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea–related Quantitative Trait Locus in Men
by
Katie L. Stone
,
Sutapa Mukherjee
,
Alexander Teumer
in
2.1 Biological and endogenous factors
,
Adult
,
Adult; Aged; Female; Genome-Wide Association Study; Humans; Male; Middle Aged; Phosphatidylethanolamine N-Methyltransferase/genetics; Quantitative Trait Loci/genetics; Sex Characteristics; Sleep Apnea, Obstructive/genetics; Sleep, REM/physiology; Sterol Regulatory Element Binding Protein 1/genetics; Transcription Factors/genetics; ras Proteins/genetics; genetics; genome-wide association studies; multiethnic; obstructive sleep apnea; sexual dimorphism
2018
Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single ethnic groups, and a large proportion of the heritability remains unexplained. The apnea-hypopnea index (AHI) is a commonly used quantitative measure characterizing OSA severity. Because OSA differs by sex, and the pathophysiology of obstructive events differ in rapid eye movement (REM) and non-REM (NREM) sleep, we hypothesized that additional genetic association signals would be identified by analyzing the NREM/REM-specific AHI and by conducting sex-specific analyses in multiethnic samples. We performed genome-wide association tests for up to 19,733 participants of African, Asian, European, and Hispanic/Latino American ancestry in 7 studies. We identified rs12936587 on chromosome 17 as a possible quantitative trait locus for NREM AHI in men (N = 6,737; P = 1.7 × 10
) but not in women (P = 0.77). The association with NREM AHI was replicated in a physiological research study (N = 67; P = 0.047). This locus overlapping the RAI1 gene and encompassing genes PEMT1, SREBF1, and RASD1 was previously reported to be associated with coronary artery disease, lipid metabolism, and implicated in Potocki-Lupski syndrome and Smith-Magenis syndrome, which are characterized by abnormal sleep phenotypes. We also identified gene-by-sex interactions in suggestive association regions, suggesting that genetic variants for AHI appear to vary by sex, consistent with the clinical observations of strong sexual dimorphism.
Journal Article
Relationship between Perceived Physical Competence and Outdoor Play among Children Aged 9–12 Years-Focused Sex-Specific Differences
2023
Background: Outdoor play (OP), which is considered important for children’s development, is declining every year. Perceived physical competence (PPC) is a vital factor that promotes physical activity such as OP, sports clubs, etc., but the relationship between PPC and OP was unknown. The purpose of this research was to investigate the relationship between PPC and OP in children and consider whether there were any sex-specific changes. Methods: A cross-sectional study was conducted in Japan with 288 children (134 girls, age: 10.6 ± 1.01 years). OP was assessed using an original self-report questionnaire. Each weekday, the children reported the time of OP and were classified as “high” if they played outside for at least an hour three times. PPC was evaluated with a self-report questionnaire developed by Okazawa et al. (1996). It has 12 questions and was assessed on a 5-point Likert scale. After adjusting for age, sex, BMI, screen time, sports club participation, and the number of friends, logistic regression analyses were carried out. Results: Children with better PPC were significantly more likely to be classified as “high” [crude odds ratio (OR): 1.04; 95% confidence interval (CI): 1.00–1.08; adjusted OR: 1.04; 95% CI: 1.00–1.08]. Only girls with better PPC were significantly more likely to be classified as “high” in a sex-based stratified analysis [crude OR: 1.08; 95% CI: 1.01–1.15, adjusted OR 1.09; 95% CI: 1.02–1.17]. Conclusions: Particularly among girls, OP could be promoted as a voluntary physical activity with improved PPC.
Journal Article
Biological sex identification in the endangered dusky gopher frog (Lithobates sevosa): a comparison of body size measurements, secondary sex characteristics, ultrasound imaging, and urinary hormone analysis methods
by
Willard, Scott T.
,
Langhorne, Cecilia J.
,
Graham, Katherine M.
in
Animals
,
Anura
,
Body Size - physiology
2016
Background
Accurate sex identification techniques are important for wildlife demographic studies and for genetic management of captive breeding colonies. Various non-invasive methods for identification of biological sex in the weakly dimorphic endangered dusky gopher frog (DGF;
Lithobates sevosa
) were explored to support planned recovery efforts for this species including breeding and augmentation of wild populations.
Methods
Body size (snout-vent length and body weight) measurements, observation of nuptial pads, ultrasound imaging, and urinary hormone analysis for testosterone and estrone were performed on 27 male and 19 female DGFs. For each method, the mean and range of measurement values were determined for male and female DGFs housed in a captive breeding population. The ability of these methods to accurately predict the true biological sex of the individuals was assessed retrospectively.
Results
Body size measurements were of limited use for sex identification purposes, as males and females demonstrated overlapping body lengths and weights. Observation of the presence/absence of nuptial pads in males and females, respectively, proved to be accurate and easy to perform in most cases. Ultrasound imaging was useful for predicting the sex of female frogs, particularly when females were gravid. Commercial enzyme immunoassay kits were validated to measure urinary hormones in the DGF. Mean urinary testosterone (males: 2.22 ± 0.38 ng/ml; females: 0.92 ± 0.11 ng/ml) and estrone (males: 0.08 ± 0.01 ng/ml; females: 1.50 ± 0.39 ng/ml) concentrations were significantly (
p
< 0.05) different between the sexes. However, there was some overlap in hormone concentrations between the sexes. When a ratio of testosterone (T) to estrone (E) concentrations was calculated for each individual, males demonstrated significantly greater T/E ratios compared to females (
p
< 0.05). Use of this ratio showed greater accuracy in predicting the sex of the animal compared to using testosterone or estrone concentrations alone.
Conclusions
Monitoring for presence/absence of nuptial pads and using urinary testosterone to estrone hormone ratios were the most accurate methods for identifying the biological sex of adult DGFs. Urinary hormone measurements for sex identification may be useful in other weakly dimorphic and monomorphic amphibian species in both
ex situ
and
in situ
settings.
Journal Article