The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.
Sex-chromosome dosage effects on gene expression in humans
Open accessPublished version of a preprint
Abstract
ABSTRACT A fundamental question in the biology of sex-differences has eluded direct study in humans: how does sex chromosome dosage (SCD) shape genome function? To address this, we developed a systematic map of SCD effects on gene function by analyzing genome-wide expression data in humans with diverse sex chromosome aneuploidies (XO, XXX, XXY, XYY, XXYY). For sex chromosomes, we demonstrate a pattern of obligate dosage sensitivity amongst evolutionarily preserved X-Y homologs, and update prevailing theoretical models for SCD compensation by detecting X-linked genes whose expression increases with decreasing X- and/or Y-chromosome dosage. We further show that SCD-sensitive sex chromosome genes regulate specific co-expression networks of SCD-sensitive autosomal genes with critical cellular functions and a demonstrable potential to mediate previously documented SCD effects on disease. Our findings detail wide-ranging effects of SCD on genome function with implications for human phenotypic variation. SIGNIFICANCE STATEMENT Sex chromosome dosage (SCD) effects on human gene expression are central to the biology of sex differences and sex chromosome aneuploidy syndromes, but challenging to study given the co-segregation of SCD and gonadal status. We address this obstacle by systematically modelling SCD effects on genome wide expression data from a large and rare cohort of individuals with diverse SCDs (XO, XX, XXX, XXXX, XY, XXY, XYY, XXYY, XXXXY). Our findings update current models of sex chromosome biology by (i) pinpointing a core set of X- and Y-linked genes with “obligate” SCD sensitivity, (ii) discovering several non-canonical modes of X-chromosome dosage compensation, and (iii) dissecting complex regulatory effects of X-chromosome dosage on large autosomal gene networks with key roles in cellular functioning.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“There is also evidence that sex chromosome dosage sensitive genes on the X chromosome regulate specific networks of autosomal genes, indicating an organized regulatory gene network of genes on the X chromosome and autosomes.107,110”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [107]
In the citing paper
“There is evidence of a unique and tissue-specific genome-wide methylation and transcription landscape in TS extending to both the X chromosome and the autosomes.103-109”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [107]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
limma powers differential expression analyses for RNA-sequencing and microarray studies
Ritchie, M. E., Phipson, B., Wu, D., Hu, Y., Law, C. W., Shi, W., & Smyth, G. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv007 · Cited by 40,458
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252
Analyzing real-time PCR data by the comparative CT method
Schmittgen, T. D., & Livak, K. J. (2008) · Nature Protocols · doi:10.1038/nprot.2008.73 · Cited by 26,190
A General Framework for Weighted Gene Co-Expression Network Analysis
Zhang, B., & Horvath, S. (2005) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1128 · Cited by 5,684
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062
GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists
Eden, E., Navon, R., Steinfeld, I., Lipson, D., & Yakhini, Z. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-48 · Cited by 3,356
Mapping and analysis of chromatin state dynamics in nine human cell types
Ernst, J., Kheradpour, P., Mikkelsen, T. S., Shoresh, N., Ward, L. D., Epstein, C. B., Zhang, X., Wang, L., Issner, R., Coyne, M., et al. (2011) · Nature · doi:10.1038/nature09906 · Cited by 2,898
DNA methylation and epigenetic inheritance
Holliday, R. (1990) · Philosophical transactions of the Royal Society of London. Series B, Biological sciences · doi:10.1098/rstb.1990.0015 · Cited by 2,290
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
Skaletsky, H., Kuroda-Kawaguchi, T., Minx, P. J., Cordum, H. S., Hillier, L., Brown, L. G., Repping, S., Pyntikova, T., Ali, J., Bieri, T. A., et al. (2003) · Nature · doi:10.1038/nature01722 · Cited by 2,148
X-inactivation profile reveals extensive variability in X-linked gene expression in females
Carrel, L., & Willard, H. F. (2005) · Nature · doi:10.1038/nature03479 · Cited by 2,097
Cited by
Sorted by citations
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356
Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Seidlitz, J., Nadig, A., Liu, S., Bethlehem, R. A. I., Vértes, P. E., Morgan, S. E., Váša, F., Romero-García, R., Lalonde, F. M., CLASEN, L. S., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17051-5 · Cited by 349
Self-citationThe role of sex in the genomics of human complex traits
Khramtsova, E. A., Davis, L. K., & Stranger, B. E. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-018-0083-1 · Cited by 303
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224
Liu, S., Seidlitz, J., Blumenthal, J. D., CLASEN, L. S., & Raznahan, A. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1919091117 · Cited by 221
Self-citationGenome-Wide Sex and Gender Differences in Cancer
Lopes‐Ramos, C. M., Quackenbush, J. F., & DeMeo, D. L. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.597788 · Cited by 168
The changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149
DeCasien, A. R., Guma, E., Liu, S., & Raznahan, A. (2022) · Biology of Sex Differences · doi:10.1186/s13293-022-00448-w · Cited by 149
Self-citationLanden, S., Hiam, D., Voisin, S., Jacques, M., Lamon, S., & Eynon, N. (2023) · The Journal of Physiology · doi:10.1113/jp279499 · Cited by 137
Bhargava, A., Arnold, A. P., Bangasser, D. A., Denton, K. M., Gupta, A., Hilliard Krause, L. M., Mayer, E. A., McCarthy, M., Miller, W. L., Raznahan, A., et al. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnaa034 · Cited by 130
Self-citationZhang, X., Hong, D., Ma, S., Ward, T., Ho, M., Pattni, R., Duren, Z., Stankov, A., Bade Shrestha, S., Hallmayer, J., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910003117 · Cited by 101
Epigenetic mechanisms underlying sex differences in the brain and behavior
Kundaković, M., & Tickerhoof, M. C. (2023) · Trends in Neurosciences · doi:10.1016/j.tins.2023.09.007 · Cited by 93
Signatures of sex: Sex differences in gene expression in the vertebrate brain
Gegenhuber, B., & Tollkühn, J. (2019) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.348 · Cited by 89
(13376925), S. L., Hiam, D., Voisin, S. A. C., (13283841), M. J., Lamon, S., & (13308696), N. E. (2024) · Figshare · Cited by 85
X-Chromosome Inactivation and Related Diseases
Sun, Z., Fan, J., & Wang, Y. (2022) · Genetics Research · doi:10.1155/2022/1391807 · Cited by 93
Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome
Navarro-Cobos, M. J., Balaton, B. P., & Brown, C. J. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31800 · Cited by 80
Sexual differentiation of brain and other tissues: Five questions for the next 50 years
Arnold, A. P. (2020) · Hormones and Behavior · doi:10.1016/j.yhbeh.2020.104691 · Cited by 75
Consequences of sex differences in Type I IFN responses for the regulation of antiviral immunity
Pujantell, M., & Altfeld, M. A. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.986840 · Cited by 77
The human inactive X chromosome modulates expression of the active X chromosome
Roman, A. K. S., Godfrey, A. K., Skaletsky, H., Bellott, D. W., Groff, A. F., Harris, H. L., Blanton, L. V., Hughes, J. F., Brown, L. G., Phou, S., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100259 · Cited by 82
Global impacts of chromosomal imbalance on gene expression in Arabidopsis and other taxa
Hou, J., Shi, X., Chen, C., Islam, M. S., Johnson, A. F., Kanno, T., Hüettel, B., Yen, M., Hsu, F., Ji, T., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1807796115 · Cited by 73
X-chromosome regulation and sex differences in brain anatomy
Raznahan, A., & Distèche, C. M. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.10.024 · Cited by 69
Self-citationLysine demethylases KDM6A and UTY: The X and Y of histone demethylation
Gažová, I., Lengeling, A., & SUMMERS, K. M. (2019) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2019.04.012 · Cited by 69
Sex Differences in Variability of Brain Structure Across the Lifespan
Forde, N. J., Jeyachandra, J., Joseph, M. J. E., Jacobs, G. R., Dickie, E. W., Satterthwaite, T. D., Shinohara, R. T., Ameis, S. H., & Voineskos, A. N. (2020) · Cerebral Cortex · doi:10.1093/cercor/bhaa123 · Cited by 66
Sex and Gender Differences in AKI
Curtis, L. M. (2023) · Kidney360 · doi:10.34067/kid.0000000000000321 · Cited by 67
Sex Differences Are Here to Stay: Relevance to Prenatal Care
Inkster, A. M., Fernández-Boyano, I., & Robinson, W. P. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10133000 · Cited by 67
Epigenetics and genomics in Turner syndrome
Viuff, M. H., Skakkebaek, A. H., Nielsen, M. M., Chang, S., & Gravholt, C. H. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31683 · Cited by 66
X chromosome agents of sexual differentiation
Arnold, A. P. (2022) · Nature Reviews Endocrinology · doi:10.1038/s41574-022-00697-0 · Cited by 59
The human Y and inactive X chromosomes similarly modulate autosomal gene expression
Roman, A. K. S., Skaletsky, H., Godfrey, A. K., Bokil, N. V., Teitz, L. S., Singh, I., Blanton, L. V., Bellott, D. W., Pyntikova, T., Lange, J., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100462 · Cited by 63
Birchler, J. A., & Veitia, R. A. (2021) · Cytogenetic and Genome Research · doi:10.1159/000519592 · Cited by 67
Khramtsova, E. A., Wilson, M. A., Martin, J., Winham, S. J., He, K., Davis, L. K., & Stranger, B. E. (2023) · Cell · doi:10.1016/j.cell.2023.04.014 · Cited by 57
Recent advances in managing and understanding Klinefelter syndrome
Bearelly, P., & Oates, R. D. (2019) · F1000Research · doi:10.12688/f1000research.16747.1 · Cited by 55
Sexual Dimorphism in the Age of Genomics: How, When, Where
Deegan, D. F., & Engel, N. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00186 · Cited by 54
A framework for developing sex-specific engineered heart models
Lock, R., Al Asafen, H., Fleischer, S., Tamargo, M., Zhao, Y., Radisic, M., & Vunjak-Novakovic, G. (2021) · Nature Reviews Materials · doi:10.1038/s41578-021-00381-1 · Cited by 50
Tartaglia, N. R., Howell, S., Davis, S., Kowal, K., Tanda, T., Brown, M. R., Boada, C., Alston, A., Crawford, L., Thompson, T., et al. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31807 · Cited by 50
Self-citationOlney, K. C., Brotman, S. M., Andrews, J. P., Valverde-Vesling, V. A., & Wilson, M. A. (2020) · Biology of Sex Differences · doi:10.1186/s13293-020-00312-9 · Cited by 51
Genomic imbalance determines positive and negative modulation of gene expression in diploid maize
Shi, X., Yang, H. Q., Chen, C., Hou, J., Hanson, K. M., Albert, P. S., Ji, T., Cheng, J. J., & Birchler, J. A. (2021) · The Plant Cell · doi:10.1093/plcell/koab030 · Cited by 43
Y disruption, autosomal hypomethylation and poor male lung cancer survival
Willis‐Owen, S. A. G., Domingo‐Sabugo, C., Starren, E., Liang, L., Freidin, M. B., Arseneault, M., Zhang, Y., Lu, S. K., Popat, S., Lim, E. K. S., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-91907-8 · Cited by 42
Berglund, A., Stochholm, K., & Gravholt, C. H. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0837-y · Cited by 40
Somatic mosaicism of sex chromosomes in the blood and brain
Graham, E., Vermeulen, M., Vardarajan, B. N., Bennett, D. A., Jager, P. L. D., Pearse, R. V., Young‐Pearse, T. L., & Mostafavi, S. (2019) · Brain Research · doi:10.1016/j.brainres.2019.146345 · Cited by 42
Aneuploidy and Gene Expression: Is there Dosage Compensation?
Kojima, S., & Cimini, D. (2019) · Epigenomics · doi:10.2217/epi-2019-0135 · Cited by 42
Nielsen, M. M., Trolle, C., Vang, S., Hornshøj, H., Skakkebaek, A. H., Hedegaard, J., Nordentoft, I., Pedersen, J. S., & Gravholt, C. H. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31799 · Cited by 39
Joseph, L. A., Farmer, C., Chlebowski, C., Henry, L., Fish, A. M., Mankiw, C., Xenophontos, A., CLASEN, L. S., Sauls, B., Seidlitz, J., et al. (2018) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-018-9248-7 · Cited by 39
Self-citationConsequences of chromosome gain: A new view on trisomy syndromes
Krivega, M., Stiefel, C. M., & Štorchová, Z. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.10.014 · Cited by 40
Sánchez, X. C., Montalbano, S., Vaez, M., Krebs, M. D., Byberg-Grauholm, J., Mortensen, P. B., Børglum, A. D., HOUGAARD, D. M., Nordentoft, M., Geschwind, D. H., et al. (2023) · The Lancet Psychiatry · doi:10.1016/s2215-0366(23)00004-4 · Cited by 39
Self-citationMarfan syndrome: A therapeutic challenge for long-term care
Wagner, A. H., Zaradzki, M., Arif, R., Remes, A. K., Müller, O. J., & Kallenbach, K. (2019) · Biochemical Pharmacology · doi:10.1016/j.bcp.2019.03.034 · Cited by 37
Mosaic loss of Chromosome Y in aged human microgliaPreprint
Vermeulen, M., Pearse, R. V., Young‐Pearse, T. L., & Mostafavi, S. (2022) · Genome Research · doi:10.1101/gr.276409.121 · Cited by 35
X chromosome dosage and the genetic impact across human tissues
Viuff, M., Skakkebæk, A., Johannsen, E. B., Chang, S., Pedersen, S. B., Lauritsen, K. M., Pedersen, M. G. B., Trolle, C., Just, J., & Gravholt, C. H. (2023) · Genome Medicine · doi:10.1186/s13073-023-01169-4 · Cited by 34
Genetics and Epigenetics of Sex Bias: Insights from Human Cancer and Autoimmunity
Credendino, S. C., Neumayer, C., & Cantone, I. (2020) · Trends in Genetics · doi:10.1016/j.tig.2020.06.016 · Cited by 36
Predominantly inverse modulation of gene expression in genomically unbalanced disomic haploid maize
Yang, H. Q., Shi, X., Chen, C., Hou, J., Ji, T., Cheng, J. J., & Birchler, J. A. (2021) · The Plant Cell · doi:10.1093/plcell/koab029 · Cited by 34
Sexual Dimorphism of the Heart: Genetics, Epigenetics, and Development
Deegan, D. F., Nigam, P., & Engel, N. (2021) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2021.668252 · Cited by 37
The lncRNAs at X Chromosome Inactivation Center: Not Just a Matter of Sex Dosage Compensation
Siniscalchi, C., Palo, A. D., Russo, A., & Potenza, N. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23020611 · Cited by 34
Genetics and Epigenetics of the X and Y Chromosomes in the Sexual Differentiation of the Brain
Zapata, L. E. C., García‐Segura, L. M., Cambiasso, M. J., & Arévalo, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232012288 · Cited by 38
The X Files: “The Mystery of X Chromosome Instability in Alzheimer’s Disease”
Bajić, V., Essack, M., Živković, L., Stewart, A. J., Zafirovic, S. S., Bajić, V. B., Gojobori, T., Isenović, E. R., & Spremo‐Potparević, B. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2019.01368 · Cited by 33
X-factors in human disease: impact of gene content and dosage regulation
Fang, H., Deng, X., & Distèche, C. M. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab221 · Cited by 29
Immediate Dosage Compensation Is Triggered by the Deletion of Y-Linked Genes in Silene latifolia
Krasovec, M., Kazama, Y., Ishii, K., Abe, T., & Filatov, D. A. (2019) · Current Biology · doi:10.1016/j.cub.2019.05.060 · Cited by 29
The impact of chromosomal sex on cardiometabolic health and disease
Wiese, C. B., Avetisyan, R., & Reue, K. (2023) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2023.07.003 · Cited by 32
DeMeo, D. L. (2024) · Annual Review of Physiology · doi:10.1146/annurev-physiol-042022-014322 · Cited by 30
Mazen, I., Mekkawy, M. K., Kamel, A. K., Essawi, M. L., Hassan, H. A., Abdel‐Hamid, M. S., Amr, K. S., Soliman, H. N., El‐Ruby, M., Torky, A., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62129 · Cited by 28
Nadig, A., Reardon, P. K., Seidlitz, J., McDermott, C. L., Blumenthal, J. D., CLASEN, L. S., Lalonde, F. M., Lerch, J. P., Chakravarty, M. M., & Raznahan, A. (2018) · eNeuro · doi:10.1523/eneuro.0265-18.2018 · Cited by 29
Self-citationAneuploidy effects on human gene expression across three cell types
Liu, S., Akula, N., Reardon, P. K., Russ, J. L., Torres, E. N., CLASEN, L. S., Blumenthal, J. D., Lalonde, F., McMahon, F. J., Szele, F. G., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2218478120 · Cited by 26
Self-citationTranslating the Transcriptome: Sex Differences in the Mechanisms of Depression and Stress, Revisited
Rainville, J. R., Lipuma, T., & Hodes, G. E. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.003 · Cited by 25
Transcriptomic and Cellular Decoding of Regional Brain Vulnerability to Neurodevelopmental DisordersPreprint
Seidlitz, J., Nadig, A., Liu, S., Bethlehem, R. A. I., Vértes, P. E., Morgan, S. E., Váša, F., Romero-García, R., Lalonde, F. M., CLASEN, L. S., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/573279 · Cited by 25
Self-citationDosage-sensitive miRNAs trigger modulation of gene expression during genomic imbalance in maize
Shi, X., Yang, H. Q., Chen, C., Hou, J., Ji, T., Cheng, J. J., & Birchler, J. A. (2022) · Nature Communications · doi:10.1038/s41467-022-30704-x · Cited by 24
Johannsen, E. B., Just, J., Viuff, M. H., Okholm, T. L. H., Pedersen, S. B., Lauritsen, K. M., Trolle, C., Pedersen, M. G. B., Chang, S., Fedder, J., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.928874 · Cited by 24
Epigenetics and genomics in Klinefelter syndrome
Skakkebaek, A. H., Viuff, M. H., Nielsen, M. M., & Gravholt, C. H. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31802 · Cited by 24
Four layer multi-omics reveals molecular responses to aneuploidy in Leishmania
Cuypers, B., Meysman, P., Erb, I., Bittremieux, W., Valkenborg, D., Baggerman, G., Mertens, I., Sundar, S., Khanal, B., Notredame, C., et al. (2022) · PLoS Pathogens · doi:10.1371/journal.ppat.1010848 · Cited by 26
Effects of human sex chromosome dosage on spatial chromosome organization
Jowhar, Z. M., Shachar, S., Gudla, P. R., Wangsa, D., Torres, E. N., Russ, J. L., Pegoraro, G., Ried, T., Raznahan, A., & Misteli, T. (2018) · Molecular Biology of the Cell · doi:10.1091/mbc.e18-06-0359 · Cited by 24
Self-citationExpression Evolution of Ancestral XY Gametologs across All Major Groups of Placental Mammals
Martínez-Pacheco, M., Tenorio, M., Almonte, L., Fajardo, V., Godínez, A., Fernández, D., Cornejo‐Páramo, P., Díaz-Barba, K., Halbert, J., Liechti, A., et al. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa173 · Cited by 22
Zhang, S., Qi, H., Huang, C., Yuan, L., Zhang, L., Wang, R., Tian, Y. T., & Sun, L. (2021) · Scientific Reports · doi:10.1038/s41598-021-99268-y · Cited by 20
Astro, V., Alowaysi, M., Fiacco, E., Saera-Vila, A., Cardona‐Londoño, K. J., Cigliano, R. A., & Adamo, A. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.801597 · Cited by 20
Novel insights in Turner syndrome
Aly, J. M., & Kruszka, P. S. (2022) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001135 · Cited by 21
Sex-biased gene expression during neural differentiation of human embryonic stem cells
Pottmeier, P., Nikolantonaki, D., Lanner, F., Peuckert, C., & JAZIN, E. E. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1341373 · Cited by 20
Berry, A. S. F., Finucane, B. M., Myers, S. M., Walsh, L. K., Seibert, J. M., Martin, C. L., Ledbetter, D. H., & Oetjens, M. T. (2024) · Nature Communications · doi:10.1038/s41467-024-53211-7 · Cited by 22
Social functioning and emotion recognition in adults with triple X syndrome
Otter, M., Crins, P. M. L., Campforts, B. C. M., Schrander-Stumpel, C. T. R. M., van Amelsvoort, T., & Vingerhoets, C. (2021) · BJPsych Open · doi:10.1192/bjo.2021.8 · Cited by 19
AZFa candidate gene UTY and its X homologue UTX are expressed in human germ cells
Vogt, P. H., Zimmer, J., Bender, U., & Strowitzki, T. (2021) · Reproduction and Fertility · doi:10.1530/raf-20-0049 · Cited by 18
Oberlin, D. J. (2023) · Frontiers in Sports and Active Living · doi:10.3389/fspor.2023.1224476 · Cited by 24
Green, T., Flash, S., Shankar, G., Shrestha, S. B., Jo, B., Klabunde, M., Hong, D. S., & Reiss, A. L. (2021) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15020 · Cited by 17
Pharmaceutical Implications of Sex-Related RNA Divergence in Psychiatric Disorders
Simchovitz, A., & Soreq, H. (2020) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2020.09.003 · Cited by 17
Arévalo, L., Gardner, S. A., & Polly Campbell, A. (2020) · Evolution · doi:10.1111/evo.14132 · Cited by 16
The multi-omic landscape of sex chromosome abnormalities: current status and future directions
Tallaksen, H. B. L., Johannsen, E. B., Just, J., Viuff, M. H., Gravholt, C. H., & Skakkebaek, A. H. (2023) · Endocrine Connections · doi:10.1530/ec-23-0011 · Cited by 20
Sex effects on gene expression across the human cerebral cortex at cell type resolution
DeCasien, A. R., Auluck, P. K., Liu, S., Feng, N., Elkahloun, A. G., Xu, Q., Marenco, S., Cookson, M., & Raznahan, A. (2026) · Science · doi:10.1126/science.aea9063 · Cited by 22
Self-citationPatterns of psychopathology and cognition in sex chromosome aneuploidy
Rau, S., Whitman, E. T., Schauder, K., Gogate, N., Lee, N. R., Kenworthy, L., & Raznahan, A. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09407-9 · Cited by 14
Self-citationPain mechanisms in the transgender individual: a review
Anger, J. T., Case, L. K., Baranowski, A. P., Berger, A. S., Craft, R. M., Damitz, L., Gabriel, R. A., Harrison, T. E., Kaptein, K., Lee, S., et al. (2024) · Frontiers in Pain Research · doi:10.3389/fpain.2024.1241015 · Cited by 15
Manotas, M. C., Calderón, J. C., López-Kleine, L., Suárez-Obando, F., Moreno, O. M., & Rojas, A. P. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1503 · Cited by 14
Sex Chromosome Dosage Effects on White Matter Structure in the Human Brain
Warling, A., Yavi, M., CLASEN, L. S., Blumenthal, J. D., Lalonde, F. M., Raznahan, A., & Liu, S. (2021) · Cerebral Cortex · doi:10.1093/cercor/bhab162 · Cited by 13
Self-citationXenophontos, A., Seidlitz, J., Liu, S., CLASEN, L. S., Blumenthal, J. D., Giedd, J. N., Alexander‐Bloch, A. F., & Raznahan, A. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz235 · Cited by 14
Self-citationLevitis, E., Liu, S., Whitman, E. T., Warling, A., Torres, E. N., CLASEN, L. S., Lalonde, F. M., Sarlls, J. E., Alexander, D. C., & Raznahan, A. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.07.008 · Cited by 13
Self-citationSex chromosome aneuploidy alters the relationship between neuroanatomy and cognition
Warling, A., Liu, S., Wilson, K. E., Whitman, E. T., Lalonde, F. M., CLASEN, L. S., Blumenthal, J. D., & Raznahan, A. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31795 · Cited by 12
Self-citationGravholt, C. H., Ferlin, A., Gromoll, J., Juul, A., Raznahan, A., van Rijn, S., Rogol, A. D., Skakkebaek, A. H., Tartaglia, N. R., & Swaab, H. (2023) · Endocrine Connections · doi:10.1530/ec-22-0500 · Cited by 13
Self-citationMaternal protein intake in early pregnancy and child development at age 3 years
Miyake, K., Mochizuki, K., Kushima, M., Shinohara, R., Horiuchi, S., Otawa, S., Akiyama, Y., Ooka, T., Kojima, R., Yokomichi, H., et al. (2023) · Pediatric Research · doi:10.1038/s41390-022-02435-8 · Cited by 12
DNA methylation-based profiling of horse archaeological remains for age-at-death and castration
Liu, X., Seguin‐Orlando, A., Chauvey, L., Tressières, G., Schiavinato, S., Tonasso‐Calvière, L., Aury, J., Perdereau, A., Wagner, S., Clavel, P., et al. (2023) · iScience · doi:10.1016/j.isci.2023.106144 · Cited by 12
Evolutionary divergence between homologous X–Y chromosome genes shapes sex-biased biology
DeCasien, A. R., Tsai, K., Liu, S., Thomas, A. G., & Raznahan, A. (2025) · Nature Ecology & Evolution · doi:10.1038/s41559-024-02627-x · Cited by 13
Self-citationDavies, W. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104169 · Cited by 11
Howell, S., Davis, S., Thompson, T., Brown, M. R., Tanda, T., Kowal, K., Alston, A., ROSS, J. L., & Tartaglia, N. R. (2022) · Journal of Genetic Counseling · doi:10.1002/jgc4.1639 · Cited by 11
Self-citationPredescu, D. N., Mokhlesi, B., & Predescu, S. A. (2024) · Biology of Sex Differences · doi:10.1186/s13293-024-00681-5 · Cited by 12
Raznahan, A., Rau, S., Schaffer, L., Liu, S., Fish, A. M., Mankiw, C., Xenophontos, A., CLASEN, L. S., Joseph, L. A., Thurm, A. E., et al. (2023) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-023-09476-y · Cited by 10
Self-citationHybridization altered the gut microbiota of pigs
Wei, L., Zeng, B., Zhang, S., Guo, W., Li, F., Zhao, J., & Li, Y. (2023) · Frontiers in Microbiology · doi:10.3389/fmicb.2023.1177947 · Cited by 10
The mouse as a model of fundamental concepts related to Turner syndrome
Arnold, A. P. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31681 · Cited by 11
How does biological sex affect the physiological response to nanomaterials?
Yang, J. J., Narayanamurthy, R., Yager, J. Y., & Unsworth, L. D. (2021) · Nano Today · doi:10.1016/j.nantod.2021.101292 · Cited by 10
Berglund, A., Johannsen, E. B., Skakkebaek, A. H., Chang, S., Rohayem, J., Laurentino, S., Hørlyck, A., Drue, S. O., Bak, E. N., Fedder, J., et al. (2024) · Biology of Sex Differences · doi:10.1186/s13293-024-00654-8 · Cited by 9
Metadata
- Authors
- Raznahan, A., Parikshak, N. N., Chandran, V., Blumenthal, J. D., Clasen, L. S., Alexander-Bloch, A. F., Zinn, A. R., Wangsa, D., Wise, J., Murphy, D. G. M., Bolton, P. F., Ried, T., Ross, J., Giedd, J. N., & Geschwind, D. H.
- Affiliations
- National Institutes of Health (US)
- University of California, Los Angeles (US)
- University of Florida (US)
- Developmental Neurogenomics Unit, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892;
- The University of Texas Southwestern Medical Center (US)
- Qiagen, Frederick, MD 21703;
- University of London (GB)
- Thomas Jefferson University (US)
- University of California San Diego (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2018-06-26
- Volume
- 115
- Issue
- 28
- Pages
- 7398-7403
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC6048519
- OpenAlex
- W2949507537
- Cited by
- 179
- References
- 44
- Citations by year
- 2026: 7 · 2025: 22 · 2024: 22 · 2023: 30 · 2022: 27 · 2021: 23 · 2020: 25 · 2019: 17 · 2018: 6
- FWCI
- 10.86
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, cc-by-nc-nd)
- Funders
- HHS | NIH | National Institute of Mental Health (1ZIAMH002949-01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- sex chromosome dosage, sex chromosome aneuploidy, gene expression, dosage compensation, X-linked genes, gene co-expression network, ZFX, transcription factor binding sites, sex differences, XXY
- MeSH terms
- Aneuploidy, Animals, Female, Gene Expression Regulation, Humans, Male, Models, Genetic, Mice, Knockout, Gene Dosage, Chromosomes, Human, X, Chromosomes, Human, Y, Mice, Kruppel-Like Transcription Factors, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
