Charlesworth B. The evolution of sex chromosomes. Science. 1991;251:1030–3.
Gschwend AR, Weingartner LA, Moore RC, Ming R. The sex-specific region of sex chromosomes in animals and plants. Chromosome Res. 2012;20:57–69.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423:825–U822.
Koerich LB, Wang X, Clark AG, Carvalho AB. Low conservation of gene content in the Drosophila Y chromosome. Nature. 2008;456:949–51.
Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34:119–24.
Styrna J, Imai HT, Moriwaki K. An increased level of sperm abnormalities in mice with a partial deletion of the Y chromosome. Genet Res. 1991;57:195–9.
Styrna J, Klag J, Moriwaki K. Influence of partial deletion of the Y chromosome on mouse sperm phenotype. J Reprod Fertil. 1991;92:187–95.
Arnold AP. Conceptual frameworks and mouse models for studying sex differences in physiology and disease: why compensation changes the game. Exp Neurol. 2014;259:2–9.
Nadeau JH, Forejt J, Takada T, Shiroishi T. Chromosome substitution strains: gene discovery, functional analysis, and systems studies. Mamm Genome. 2012;23:693–705.
Soh YQ, Alfoldi J, Pyntikova T, Brown LG, Graves T, Minx PJ, et al. Sequencing the mouse y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes. Cell. 2014;159:800–13.
Case LK, Wall EH, Osmanski EE, Dragon JA, Saligrama N, Zachary JF, et al. Copy number variation in Y chromosome multicopy genes is linked to a paternal parent-of-origin effect on CNS autoimmune disease in female offspring. Genome Biol. 2015, 16:doi:10.1186/s13059-13015-10591-13057.
Eicher EM, Washburn LL, Whitney 3rd JB, Morrow KE. Mus poschiavinus Y chromosome in the C57BL/6 J murine genome causes sex reversal. Science. 1982;217:535–7.
Eicher EM, Washburn LL. Genetic control of primary sex determination in mice. Annu Rev Genet. 1986;20:327–60.
Nagamine CM, Morohashi K, Carlisle C, Chang DK. Sex reversal caused by Mus musculus domesticus Y chromosomes linked to variant expression of the testis-determining gene Sry. Dev Biol. 1999;216:182–94.
Biddle FG, Nishioka Y. Assays of testis development in the mouse distinguish three classes of domesticus-type Y chromosome. Genome. 1988;30:870–8.
Albrecht KH, Young M, Washburn LL, Eicher EM. Sry expression level and protein isoform differences play a role in abnormal testis development in C57BL/6 J mice carrying certain Sry alleles. Genetics. 2003;164:277–88.
Palmer SJ, Burgoyne PS. The Mus musculus domesticus Tdy allele acts later than the Mus musculus musculus Tdy allele: a basis for XY sex-reversal in C57BL/6-YPOS mice. Development. 1991;113:709–14.
Robertson E, Bradley A, Kuehn M, Evans M. Germ-line transmission of genes introduced into cultured pluripotential cells by retroviral vector. Nature. 1986;323:445–8.
Evans MJ, Kaufman MH. Establishment in culture of pluripotential cells from mouse embryos. Nature. 1981;292:154–6.
Lovell-Badge R, Robertson E. XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy. Development. 1990;109:635–46.
Mahadevaiah SK, Odorisio T, Elliott DJ, Rattigan A, Szot M, Laval SH, et al. Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet. 1998;7:715–27.
Burgoyne PS, Mitchell MJ. The Roles of Mouse Y Chromosome Genes in Spermatogenesis. In: Lau FC, Chan YW, editors. Y Chromosome and Male Germ Cell Biology. Hackensack, NJ: World Scientific Publishers; 2007. p. 27–45.
Vernet N, Mahadevaiah SK, Yamauchi Y, Decarpentrie F, Mitchell MJ, Ward MA, et al. Mouse Y-linked Zfy1 and Zfy2 are expressed during the male-specific interphase between meiosis I and meiosis II and promote the 2nd meiotic division. PLoS Genet. 2014;10:e1004444.
McCarthy MM, Arnold AP. Reframing sexual differentiation of the brain. Nat Neurosci. 2011;14:677–83.
Ngun TC, Ghahramani N, Sanchez FJ, Bocklandt S, Vilain E. The genetics of sex differences in brain and behavior. Front Neuroendocrinol. 2011;32:227–46.
Pedersen JF. Ultrasound evidence of sexual difference in fetal size in first trimester. Br Med J. 1980;281:1253.
Tsunoda Y, Tokunaga T, Sugie T. Altered sex-ratio of live young after transfer of fast-developing and slow-developing mouse embryos. Gamete Res. 1985;12:301–4.
Burgoyne PS. A Y-chromosomal effect on blastocyst cell number in mice. Development. 1993;117:341–5.
Burgoyne PS, Thornhill AR, Boudrean SK, Darling SM, Bishop CE, Evans EP. The genetic basis of XX-XY differences present before gonadal sex differentiation in the mouse. Philos T Roy Soc B. 1995;350:253–60.
Llamas B, Belanger S, Picard S, Deschepper CF. Cardiac mass and cardiomyocyte size are governed by different genetic loci on either autosomes or chromosome Y in recombinant inbred mice. Physiol Genomics. 2007;31:176–82.
Llamas B, Verdugo RA, Churchill GA, Deschepper CF. Chromosome Y variants from different inbred mouse strains are linked to differences in the morphologic and molecular responses of cardiac cells to postpubertal testosterone. Bmc Genomics. 2009:10.
Suto J. Y chromosome of the inbred mouse KK/Ta strain is associated with reduced body size in Y-consomic strains. BMC Res Notes. 2013;6:64.
Chen X, McClusky R, Itoh Y, Reue K, Arnold AP. X and Y chromosome complement influence adiposity and metabolism in mice. Endocrinology. 2013;154:1092–104.
Ogata T, Matsuo N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Hum Genet. 1993;91:551–62.
Ogata T, Matsuo N. Comparison of adult height between patients with Xx and Xy gonadal-dysgenesis - support for a Y specific growth gene(S). J Med Genet. 1992;29:539–41.
Tanner JM. Normal growth and techniques of growth assessment. Clin Endocrinol Metab. 1986;15:411–51.
Ogata T, Matsuo N. The Y specific growth gene(s): how does it promote stature? J Med Genet. 1997;34:323–5.
Go AS, Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Blaha MJ, et al. Executive summary: heart disease and stroke statistics–2014 update: a report from the American Heart Association. Circulation. 2014;129:399–410.
Ely DL, Turner ME. Hypertension in the spontaneously hypertensive rat is linked to the Y-chromosome. Hypertension. 1990;16:277–81.
Ji H, Zheng W, Wu X, Liu J, Ecelbarger CM, Watkins R, et al. Sex chromosome effects unmasked in angiotensin II-induced hypertension. Hypertension. 2010;55:1275–82.
Ellis JA, Stebbing M, Harrap SB. Association of the human Y chromosome with high blood pressure in the general population. Hypertension. 2000;36:731–3.
Charchar FJ, Tomaszewski M, Padmanabhan S, Lacka B, Upton MN, Inglis GC, et al. The Y chromosome effect on blood pressure in two European populations. Hypertension. 2002;39:353–6.
Kostrzewa G, Broda G, Konarzewska M, Krajewki P, Ploski R. Genetic polymorphism of human Y chromosome and risk factors for cardiovascular diseases: a study in WOBASZ cohort. Plos One. 2013;8.
Hiura Y, Fukushima Y, Kokubo Y, Okamura T, Goto Y, Nonogi H, et al. Effects of the Y chromosome on cardiovascular risk factors in Japanese men. Hypertens Res. 2008;31:1687–94.
Shankar RR, Charchar FJ, Eckert GJ, Saha C, Tu W, Dominiczak AF, et al. Studies of an association in boys of blood pressure and the Y chromosome. Am J Hypertens. 2007;20:27–31.
Charchar FJ, Bloomer LDS, Barnes TA, Cowley MJ, Nelson CP, Wang YZ, et al. Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet. 2012;379:915–22.
Bloomer LD, Nelson CP, Eales J, Denniff M, Christofidou P, Debiec R, et al. Male-specific region of the Y chromosome and cardiovascular risk: phylogenetic analysis and gene expression studies. Arterioscler Thromb Vasc Biol. 2013;33:1722–7.
Pennell LM, Galligan CL, Fish EN. Sex affects immunity. J Autoimmun. 2012;38:J282–291.
Teuscher C, Noubade R, Spach K, McElvany B, Bunn JY, Fillmore PD, et al. Evidence that the Y chromosome influences autoimmune disease in male and female mice. Proc Natl Acad Sci U S A. 2006;103:8024–9.
Spach KM, Blake M, Bunn JY, McElvany B, Noubade R, Blankenhorn EP, et al. Cutting edge: the Y chromosome controls the age-dependent experimental allergic encephalomyelitis sexual dimorphism in SJL/J mice. J Immunol. 2009;182:1789–93.
Robinson DP, Huber SA, Moussawi M, Roberts B, Teuscher C, Watkins R, et al. Sex chromosome complement contributes to sex differences in coxsackievirus B3 but not influenza A virus pathogenesis. Biol Sex Differ. 2011;2:8.
Case LK, Toussaint L, Moussawi M, Roberts B, Saligrama N, Brossay L, et al. Chromosome y regulates survival following murine coxsackievirus b3 infection. G3 (Bethesda). 2012;2:115–21.
Palaszynski KM, Smith DL, Kamrava S, Burgoyne PS, Arnold AP, Voskuhl RR. A yin-yang effect between sex chromosome complement and sex hormones on the immune response. Endocrinology. 2005;146:3280–5.
Sun SL, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, et al. Y chromosome-linked B and NK cell deficiency in mice. J Immunol. 2013;190:6209–20.
Wesley JD, Tessmer MS, Paget C, Trottein F, Brossay L. A Y chromosome-linked factor impairs NK T development. J Immunol. 2007;179:3480–7.
Rebuzzini P, Neri T, Mazzini G, Zuccotti M, Redi CA, Garagna S. Karyotype analysis of the euploid cell population of a mouse embryonic stem cell line revealed a high incidence of chromosome abnormalities that varied during culture. Cytogenet Genome Res. 2008;121:18–24.
Gaztelumendi N, Nogues C. Chromosome instability in mouse embryonic stem cells. Sci Rep. 2014;4:5324.
Fairweather D, Cooper Jr LT, Blauwet LA. Sex and gender differences in myocarditis and dilated cardiomyopathy. Curr Probl Cardiol. 2013;38:7–46.
Gauntt C, Huber S. Coxsackievirus experimental heart diseases. Front Biosci. 2003;8:e23–35.
Case LK, Wall EH, Dragon JA, Saligrama N, Krementsov DN, Moussawi M, et al. The Y chromosome as a regulatory element shaping Immune cell transcriptomes and susceptibility to autoimmune disease. Genome Res. 2013;23:1474–85.
Sezgin E, Lind JM, Shrestha S, Hendrickson S, Goedert JJ, Donfield S, et al. Association of Y chromosome haplogroup I with HIV progression, and HAART outcome. Hum Genet. 2009;125:281–94.
Sezgin E, Drosdak A, McIntosh C, Kessing B, Lautenberger JA, Goedert JJ, et al. Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup I. J Hum Genet. 2010;55:613–20.
Smith-Bouvier DL, Divekar AA, Sasidhar M, Du S, Tiwari-Woodruff SK, King JK, et al. A role for sex chromosome complement in the female bias in autoimmune disease. J Exp Med. 2008;205:1099–108.
Du S, Itoh N, Askarinam S, Hill H, Arnold AP, Voskuhl RR. XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis. Proc Natl Acad Sci U S A. 2014;111:2806–11.
Patel R, Moore S, Crawford DK, Hannsun G, Sasidhar MV, Tan K, et al. Attenuation of corpus callosum axon myelination and remyelination in the absence of circulating sex hormones. Brain Pathol. 2013;23:462–75.
Moore S, Patel R, Hannsun G, Yang J, Tiwari-Woodruff SK. Sex chromosome complement influences functional callosal myelination. Neuroscience. 2013;245:166–78.
Cook MB, Dawsey SM, Freedman ND, Inskip PD, Wichner SM, Quraishi SM, et al. Sex disparities in cancer incidence by period and age. Cancer Epidemiol Biomarkers Prev. 2009;18:1174–82.
Cook MB, McGlynn KA, Devesa SS, Freedman ND, Anderson WF. Sex disparities in cancer mortality and survival. Cancer Epidemiol Biomarkers Prev. 2011;20:1629–37.
Mitelman F, Johansson B, Mertens FE. Mitelman database of chromosome aberrations and gene fusions in cancer. http://cgap.nci.nih.gov/Chromosomes/Mitelman 2014.
Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46:624–8.
Siegel R, Ma J, Zou Z, Jemal A. Cancer statistics, 2014. CA Cancer J Clin. 2014;64:9–29.
Vijayakumar S, Garcia D, Hensel CH, Banerjee M, Bracht T, Xiang R, et al. The human Y chromosome suppresses the tumorigenicity of PC-3, a human prostate cancer cell line, in athymic nude mice. Genes Chromosomes Cancer. 2005;44:365–72.
Vijayakumar S, Hall DC, Reveles XT, Troyer DA, Thompson IM, Garcia D, et al. Detection of recurrent copy number loss at Yp11.2 involving TSPY gene cluster in prostate cancer using array-based comparative genomic hybridization. Cancer Res. 2006;66:4055–64.
Schnieders F, Dork T, Arnemann J, Vogel T, Werner M, Schmidtke J. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Hum Mol Genet. 1996;5:1801–7.
Bianchi NO. Y chromosome structural and functional changes in human malignant diseases. Mutat Res-Rev Mutat. 2009;682:21–7.
Francisco FO, Lemos B. How do y-chromosomes modulate genome-wide epigenetic States: genome folding, chromatin sinks, and gene expression. J Genom. 2014;2:94–103.
Bhasin JM, Chakrabarti E, Peng DQ, Kulkarni A, Chen X, Smith JD. Sex specific gene regulation and expression QTLs in mouse macrophages from a strain intercross. Plos One. 2008;3.
Papenfuss TL, Rogers CJ, Gienapp I, Yurrita M, McClain M, Damico N, et al. Sex differences in experimental autoimmune encephalomyelitis in multiple murine strains. J Neuroimmunol. 2004;150:59–69.
Stohlman SA, Matsushima GK, Casteel N, Frelinger JA. The defect in delayed-type hypersensitivity of young adult SJL mice is due to a lack of functional antigen-presenting cells. Eur J Immunol. 1985;15:913–6.
Cua DJ, Hinton DR, Stohlman SA. Self-antigen-induced Th2 responses in experimental allergic ancephalomyelitis (EAE)-resistant mice. J Immunol. 1995;155:4052–9.
Praktiknjo SD, Llamas B, Scott-Boyer MP, Picard S, Robert F, Langlais D, et al. Novel effects of chromosome Y on cardiac regulation, chromatin remodeling, and neonatal programming in male mice. Endocrinology. 2013;154:4746–56.
Kumar RP, Krishnan J, Singh NP, Singh L, Mishra RK. GATA simple sequence repeats function as enhancer blocker boundaries. Nat Commun. 2013;4.
Bellott DW, Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Cho TJ, et al. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014;508:494–9.
Nelson VR, Spiezio SH, Nadeau JH. Transgenerational genetic effects of the paternal Y chromosome on daughters’ phenotypes. Epigenomics. 2010;2:513–21.
Guerrero-Bosagna C, Skinner MK. Environmentally induced epigenetic transgenerational inheritance of phenotype and disease. Mol Cell Endocrinol. 2012;354:3–8.
Carone BR, Fauquier L, Habib N, Shea JM, Hart CE, Li R, et al. Paternally induced transgenerational environmental reprogramming of metabolic gene expression in mammals. Cell. 2010;143:1084–96.
Ng SF, Lin RC, Laybutt DR, Barres R, Owens JA, Morris MJ. Chronic high-fat diet in fathers programs beta-cell dysfunction in female rat offspring. Nature. 2010;467:963–6.
Jimenez-Chillaron JC, Isganaitis E, Charalambous M, Gesta S, Pentinat-Pelegrin T, Faucette RR, et al. Intergenerational transmission of glucose intolerance and obesity by in utero undernutrition in mice. Diabetes. 2009;58:460–8.
Anderson LM, Riffle L, Wilson R, Travlos GS, Lubomirski MS, Alvord WG. Preconceptional fasting of fathers alters serum glucose in offspring of mice. Nutrition. 2006;22:327–31.
Dias BG, Ressler KJ. Parental olfactory experience influences behavior and neural structure in subsequent generations. Nat Neurosci. 2013.
Riel JM, Yamauchi Y, Sugawara A, Li HY, Ruthig V, Stoytcheva Z, et al. Deficiency of the multi-copy mouse Y gene Sly causes sperm DNA damage and abnormal chromatin packaging. J Cell Sci. 2013;126:803–13.
Ellis PJ, Bacon J, Affara NA. Association of Sly with sex-linked gene amplification during mouse evolution: a side effect of genomic conflict in spermatids? Hum Mol Genet. 2011;20:3010–21.
Cocquet J, Ellis PJ, Mahadevaiah SK, Affara NA, Vaiman D, Burgoyne PS. A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. PLoS Genet. 2012;8:e1002900.
Comptour A, Moretti C, Serrentino ME, Auer J, Ialy-Radio C, Ward MA, et al. SSTY proteins co-localize with the post-meiotic sex chromatin and interact with regulators of its expression. FEBS J. 2014;281:1571–84.
Cocquet J, Ellis PJ, Yamauchi Y, Mahadevaiah SK, Affara NA, Ward MA, et al. The multicopy gene Sly represses the sex chromosomes in the male mouse germline after meiosis. PLoS Biol. 2009;7:e1000244.
Conway SJ, Mahadevaiah SK, Darling SM, Capel B, Rattigan AM, Burgoyne PS. Y353/B: a candidate multiple-copy spermiogenesis gene on the mouse Y chromosome. Mamm Genome. 1994;5:203–10.
Burgoyne PS, Mahadevaiah SK, Sutcliffe MJ, Palmer SJ. Fertility in mice requires X-Y pairing and a Y-chromosomal “spermiogenesis” gene mapping to the long arm. Cell. 1992;71:391–8.
Xian M, Azuma S, Naito K, Kunieda T, Moriwaki K, Toyoda Y. Effect of a partial deletion of Y chromosome on in vitro fertilizing ability of mouse spermatozoa. Biol Reprod. 1992;47:549–53.
Toure A, Szot M, Mahadevaiah SK, Rattigan A, Ojarikre OA, Burgoyne PS. A new deletion of the mouse Y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility. Genetics. 2004;166:901–12.
Ellis PJ, Clemente EJ, Ball P, Toure A, Ferguson L, Turner JM, et al. Deletions on mouse Yq lead to upregulation of multiple X- and Y-linked transcripts in spermatids. Hum Mol Genet. 2005;14:2705–15.
Reynard LN, Cocquet J, Burgoyne PS. The multi-copy mouse gene Sycp3-like Y-linked (Sly) encodes an abundant spermatid protein that interacts with a histone acetyltransferase and an acrosomal protein. Biol Reprod. 2009;81:250–7.
Reynard LN, Turner JM. Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions. J Cell Sci. 2009;122:4239–48.
Belloni M, Tritto P, Bozzetti MP, Palumbo G, Robbins LG. Does Stellate cause meiotic drive in Drosophila melanogaster? Genetics. 2002;161:1551–9.
Hurst LD. Further evidence consistent with Stellate’s involvement in meiotic drive. Genetics. 1996;142:641–3.
Hughes JF, Rozen S. Genomics and genetics of human and primate y chromosomes. Annu Rev Genomics Hum Genet. 2012;13:83–108.
Sekido R. The potential role of SRY in epigenetic gene regulation during brain sexual differentiation in mammals. Adv Genet. 2014;86:135–65.
Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, Fulton RS, et al. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012;483:82–6.
Hughes JF, Skaletsky H, Pyntikova T, Graves TA, van Daalen SK, Minx PJ, et al. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature. 2010;463:536–9.
Cortez D, Marin R, Toledo-Flores D, Froidevaux L, Liechti A, Waters PD, et al. Origins and functional evolution of Y chromosomes across mammals. Nature. 2014;508:488–93.