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Mini‐Review

Y chromosome polymorphisms in medicine

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Pages 573-583 | Published online: 08 Jul 2009

References

  • Painter TS. The Y chromosome in mammals. Science 1921; 53:503–4.
  • Marshall JA, Human Y. chromosome, Sex determination, and spermatogenesis - a feminist view. Biol Reprod 2000;63:667–76.
  • Aitken JR, Marshall JA. The future of sex. Nature 2002;415: 963.
  • 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;423:825–37.
  • Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002;71:906–22.
  • Bertranpetit J. Genome, diversity, and origins: the Y chromo-some as a storyteller. Proc Natl Acad Sci USA 2000;97:6927–29.
  • Harley VR, Clarkson MJ, Argentaro A. The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and 50X9 [SRY-related high-mobility group (HMG) box 9]. Endocr Rev 2003; 24:466–87.
  • Vogt PH, Edelmann A, Kirsch S, Henegariu 0, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5: 933–43.
  • McElreavey K, Krausz C. Sex Chromosome Genetics '99. Male infertility and the Y chromosome. Am J Hum Genet 1999;64:928–33.
  • Zinn AR, Ross JL. Turner syndrome and haploinsufficiency. Curr Opin Genet Dev 1998;8:322–27.
  • Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing a novel homeo-box gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54–63.
  • Lau YF. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet 1999;64:921–27.
  • Jobling MA, Tyler-Smith C. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 2003;4:598–612.
  • Jobling MA, Tyler-Smith C. New uses for new haplotypes: the human Y chromosome, disease and selection. Trends Genet 2000;16:356–62.
  • Quintana-Murci L, Krausz C, McElreavey K. The human Y chromosome: function, evolution and disease. Forensic Sci Int 2001;118:169–81.
  • Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 2002;12:339–48.
  • Jobling MA, Williams GA, Schiebel GA, Pandya GA, McElreavey GA, Salas GA, et al. A selective difference between human Y-chromosomal DNA haplotypes. Curr Biol 1998;8:1391–94.
  • Tiepolo L, Zuffardi 0. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34: 119–24.
  • Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000;15: 1431–4.
  • Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000;9: 2563–72.
  • Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, et al. The AZFc region of the Y chromosome features massive palindromes and uniform re-current deletions in infertile men. Nat Genet 2001;29:279–86.
  • Paracchini S, Stuppia L, Gatta V, Palka G, Moro E, Foresta C, et al. Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions. J Endocrinol Invest 2000;23: 671–6.
  • Quintana-Murci L, Krausz C, Heyer E, Gromoll J, Seifer I, Barton DE, et al. The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility. Hum Genet 2001;108:55–8.
  • Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal micro-deletions. State of the art 2004 Int J Androl 2004;27: 240–9.
  • Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl 2003;26:70–5.
  • Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jorgensen N, Jobling MA, Rosser ZH, et al. Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet 2001;10:1873–7.
  • Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, et al. Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 2000;67:1526–43.
  • Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, et al. Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 1999;44:289–92.
  • Carvalho CM, Fujisawa M, Shirakawa T, Gotoh A, Kami-dono S, Freitas Paulo T, et al. Lack of association between Y chromosome haplogroups and male infertility in Japanese men. Am J Med Genet 2003;116A:152–8.
  • Previdere C, Stuppia L, Gatta V, Fattorini P, Palka G, Tyler-Smith C. Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations. Eur J Hum Genet 1999;7:733–6.
  • Paracchini S, Stuppia L, Gatta V, De Santo M, Palka G, Tyler-Smith C. Relationship between Y-chromosomal DNA haplo-type and sperm count in Italy. J Endocrinol Invest 2002;25: 993–5.
  • Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nat Genet 2001;29:306–9.
  • Skakkebaek NE, Rajpert-De Meyts E, Main KM. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001;16: 972–78.
  • Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 2004;74: 180–7.
  • Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003;35: 247–51.
  • Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, et al. Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 1996;5:1767–75.
  • Sauter G, Moch H, Wagner U, Novotna H, Gasser TC, Mattarelli G, et al. Y chromosome loss detected by FISH in bladder cancer. Cancer Genet Cytogenet 1995;82:163–9.
  • de Graaff WE, van Echten J, van der Veen AY, Sleijfer DT, Timmer A, Schraffordt Koops H, et al. Loss of the Y-chromosome in the primary metastasis of a male sex cord stromal tumor: pathogenetic implications. Cancer Genet Cytogenet 1999;112:21–5.
  • Center R, Lukeis R, Vrazas V, Garson OM. Y chromosome loss and rearrangement in non-small-cell lung cancer. Int J Cancer 1993;55:390–3.
  • Hunter S, Gramlich T, Abbott K, Varma V. Y chromosome loss in esophageal carcinoma: an in situ hybridization study. Genes Chromosomes Cancer 1993;8:172–7.
  • Lau Y, Chou P, Iezzoni J, Alonzo J, Komuves L. Expression of a candidate gene for the gonadoblastoma locus in gonado-blastoma and testicular seminoma. Cytogenet Cell Genet 2000;91:160–4.
  • Lau YF, Lau HW, Komuves LG. Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenet Genome Res 2003; 101:250–60.
  • Lau YF, Zhang J. Expression analysis of thirty one Y chromo-some genes in human prostate cancer. Mol Carcinog 2000;27: 308–21.
  • Dasari VK, Goharderakhshan RZ, Perinchery G, Li LC, Tanaka Y, Alonzo J, et al. Expression analysis of Y chromo-some genes in human prostate cancer. J Urol 2001;165:1335–41.
  • Bianchi NO, Richard SM, Peltomaki P, Bianchi MS. Mosaic AZF deletions and susceptibility to testicular tumors. Mutat Res 2002;503:51–62.
  • Frydelund-Larsen L, Vogt PH, Leffers H, Schadwinkel A, Daugaard G, Skakkebaek NE, et al. No AZF deletion in 160 patients with testicular germ cell neoplasia. Mol Hum Reprod 2003;9: 517–21.
  • Quintana-Murci L, Weale ME, Thomas MG, Erdei E, Bradman N, Shanks JH, et al. Y chromosome haplotypes and testicular cancer in the English population. J Med Genet 2003;40:20.
  • Ewis AA, Lee J, Naroda T, Sasahara K, Sano T, Kagawa S, et al. Linkage between prostate cancer incidence and different alleles of the human Y-linked tetranucleotide polymorphism DYS19. J Med Invest 2002;49:56–60.
  • Paracchini S, Pearce CL, Kolonel LN, Altshuler D, Henderson BE, Tyler-Smith C. A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study. J Med Genet 2003; 40:815–9.
  • Reckelhoff JF. Gender differences in the regulation of blood pressure. Hypertension (DATA) 37:1199-208.
  • Ely DL, Turner MT. Hypertension in the spontaneously hypertensive rat is linked to the Y chromosome. Hypertension 1990;16:277–81.
  • Turner MT, Johnson ML, Ely DL. Separate sex-influenced and genetic components in spontaneously hypertensive rat hypertension. Hypertension 1991;17:1097–103.
  • Davidson AO, Schork N, Jacques BC, Kelman AW, Sutcliffe RG, Reid JL, et al. Blood pressure in genetically hypertensive rats. Influence of the Y chromosome. Hypertension 1995;26: 452–9.
  • Kren V, Qi N, Krenova D, Zidek V, Sladka M, Jachymova M, et al. Y chromosome transfer induces changes in blood pressure and blood lipids in SHR. Hypertension 2001; 37: 1147–52.
  • Uehara Y, Shin WS, Watanabe T, Osanai T, Miyazaki M, Kanase H, et al. A hypertensive father, but not hypertensive mother, determines blood pressure in normotensive male offspring through body mass index. J Hum Hypertens 1998;12: 441–5.
  • Charchar FJ, Tomaszewski M, Strahorn P, Champagne B, Dominiczak AF. Y is there a risk to being male? Trends Endocrinol Metab 2003:14163–8.
  • Ellis JA, Stebbing M, Harrap SB. Association of the human Y chromosome with high blood pressure in the general popu-lation. 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.
  • Charchar FJ, Tomaszewski M, Lacka B, Zakrzewski J, Zukowska-Szczechowska E, Grzeszczak W, et al. Association of the human Y chromosome with cholesterol levels in the general population. Arterioscler Thromb Vasc Biol 2004;24: 308–12.
  • Shoji M, Tsutaya S, Shimada J, Kojima K, Kasai T, Yasujima M. Lack of association between Y chromosome Alu insertion polymorphism and hypertension. Hypertens Res 2002;25:1–3.
  • Garcia EC, Gonzalez P, Castro MG, Alvarez R, Reguero JR, Batalla A, et al. Association between genetic variation in the Y chromosome and hypertension in myocardial infarction patients. Am J Med Genet 2003;122A:234–7.
  • Gillberg C, Winnergard I, Wahlstrom J. The sex chromo-somes - one key to autism? An XYY case of infantile autism. Appl Res Ment Retard 1984;5:353–60.
  • Weidmer-Mikhail E, Sheldon S, Ghaziuddin M. Chromo-somes in autism and related pervasive developmental dis-orders: a cytogenetic study. J Intellect Disabil Res 1998;42:8–12.
  • International Molecular Genetic Study of Autism Consortium (IMGSAC). A genome-wide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001;69: 570–81.
  • Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, et al. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sib-pair Study. Hum Mol Genet 1999;8:805–12.
  • Jamain S, Quach H, Quintana-Murci L, Betancur C, Philippe A, Gillberg C, et al. Y chromosome haplogroups in autistic subjects. Mol Psychiatry 2002;7:21–9.

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