ArticleBiology of sex differences2013
The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance.
Article in Biology of sex differences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.bioRxiv : the preprint server for biology · 2026Article
- Sry-modified laboratory rat lines to study sex-chromosome effects underlying sex differences in physiology and disease: Four Core Genotypes and more.Biology of sex differences · 2026Article
- Gonadal and sex chromosomal contributions to sex differences in mammalian brain organization.bioRxiv : the preprint server for biology · 2026Article
- FGF21 mediating the Sex-dependent Response to Dietary Macronutrients.The Journal of clinical endocrinology and metabolism · 2024Review
- Epigenetic developmental mechanisms underlying sex differences in cancer.The Journal of clinical investigation · 2024Review
- Gender-specific genetic and epigenetic signatures in cardiovascular disease.Frontiers in cardiovascular medicine · 2024Review
- The impact of chromosomal sex on cardiometabolic health and disease.Trends in endocrinology and metabolism: TEM · 2023Review
- Inclusion of Sex as a Biological Variable in Biomedical Sciences at the Undergraduate Level and Beyond.Journal of women's health (2002) · 2023Article
- A Cross-Species Neuroimaging Study of Sex Chromosome Dosage Effects on Human and Mouse Brain Anatomy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Genetic and hormonal mechanisms underlying sex-specific immune responses in tuberculosis.Trends in immunology · 2022Review
- Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study.The Journal of clinical endocrinology and metabolism · 2022Article
- X-chromosome regulation and sex differences in brain anatomy.Neuroscience and biobehavioral reviews · 2021Review
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Sex Stratified Treatment of Neurological Disorders: Challenges and Perspectives.Brain sciences · 2020Article
- Reversal Learning Performance in the XYFrontiers in behavioral neuroscience · 2019Article
- Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders.Brain sciences · 2018Review
- Genetic Basis for Sex Differences in Obesity and Lipid Metabolism.Annual review of nutrition · 2017Review
- Sex differences in obesity: X chromosome dosage as a risk factor for increased food intake, adiposity and co-morbidities.Physiology & behavior · 2017Review
- A Guide for the Design of Pre-clinical Studies on Sex Differences in Metabolism.Cell metabolism · 2017Review
- The importance of having two X chromosomes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundKlinefelter syndrome (KS), caused by XXY karyotype, is characterized by low testosterone, infertility, cognitive deficits, and increased prevalence of health problems including obesity and diabetes. It has been difficult to separate direct genetic effects from hormonal effects in human studies or in mouse models of KS because low testosterone levels are confounded with sex chromosome complement.
methodsIn this study, we present the Sex Chromosome Trisomy (SCT) mouse model that produces XXY, XYY, XY, and XX mice in the same litters, each genotype with either testes or ovaries. The independence of sex chromosome complement and gonadal type allows for improved recognition of sex chromosome effects that are not dependent on levels of gonadal hormones. All mice were gonadectomized and treated with testosterone for 3 weeks. Body weight, body composition, and motor function were measured.
resultsBefore hormonal manipulation, XXY mice of both sexes had significantly greater body weight and relative fat mass compared to XY mice. After gonadectomy and testosterone replacement, XXY mice (both sexes) still had significantly greater body weight and relative fat mass, but less relative lean mass compared to XY mice. Liver, gonadal fat pad, and inguinal fat pad weights were also higher in XXY mice, independent of gonadal sex. In several of these measures, XX mice also differed from XY mice, and gonadal males and females differed significantly on almost every metabolic measure. The sex chromosome effects (except for testis size) were also seen in gonadally female mice before and after ovariectomy and testosterone treatment, indicating that they do not reflect group differences in levels of testicular secretions. XYY mice were similar to XY mice on body weight and metabolic variables but performed worse on motor tasks compared to other groups.
conclusionsWe find that the new SCT mouse model for XXY and XYY recapitulates features found in humans with these aneuploidies. We illustrate that this model has significant promise for unveiling the role of genetic effects compared to hormonal effects in these syndromes, because many phenotypes are different in XXY vs. XY gonadal female mice which have never been exposed to testicular secretions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.