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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Y Chromosome

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Disease relevance of Y Chromosome


High impact information on Y Chromosome

  • Here we report the finished sequence of the chimpanzee Y chromosome (PTRY), including 271 kb of the Y-specific pseudoautosomal region 1 and 12.7 Mb of the male-specific region of the Y chromosome [6].
  • Evidence that positive selection drives Y-chromosome degeneration in Drosophila miranda [7].
  • Primitive cells bearing Y chromosomes that expressed c-kit, MDR1, and Sca-1 were also investigated [8].
  • In most mammals, male development is triggered by the transient expression of the Y-chromosome gene, Sry, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad [9].
  • In a six-generation pedigree with LWD, we established linkage to the marker DXYS6814 in the pseudoautosomal region (PAR1) of the X and Y chromosomes (Z max=6.28; theta=0) [10].

Chemical compound and disease context of Y Chromosome


Biological context of Y Chromosome


Anatomical context of Y Chromosome

  • The Y chromosome RNA recognition motif (YRRM) family includes a minimum of three members expressed specifically in the testis [18].
  • The X-linked actin sequence has been assigned to a centromeric region between Xp11 and Xq11 by hybridization to DNAs from a panel of human-mouse hybrid cell lines, and thus lies outside the postulated region of homology between the X and Y chromosomes [19].
  • Two-color centromeric FISH was used to study the inclusion of the X and Y chromosomes in micronuclei of cultured lymphocytes from 10 men representing two age groups (21-29 years and 51-55 years) [20].
  • We suggest that GATA repeats of Bkm brings about a coordinated decondensation of the W and Y sex chromosomes in the germ cells of the heterogametic sex in response to BBP which may serve as a "switch" for the activation of the genes present on the W and Y chromosomes [21].
  • Two genes (Dby and Eif2s3y) were mapped to the Y chromosome and were expressed in male blastocysts [22].

Associations of Y Chromosome with chemical compounds

  • In conclusion, testosterone caused an enhanced renal NE release that was strain-specific, with the Y chromosome raising renal NE content and release [23].
  • Testosterone effects on renal norepinephrine content and release in rats with different Y chromosomes [23].
  • Further analyses of 14 strains tested for the permissive vs. restrictive status of their flamenco alleles suggest that the presence of permissive alleles of flam in a stock tends to be associated with the confinement of active gypsy elements to the Y chromosome [24].
  • Although quinacrine staining of Y chromosomes can be performed on cells previously marked for membrane antigens, this staining is not fully discriminative between male and female cells [25].
  • When the biotin-labeled DOP-PCR product was hybridized with competitor DNA in situ, the fluorescent signal painted the Y chromosomes [26].

Gene context of Y Chromosome

  • Hya, the murine locus controlling H-Y expression, has been localized to delta Sxrb, a deletion interval of the short arm of the Y chromosome [27].
  • We report here the identification of a functional marsupial Y-linked homologue of the murine Ube1y gene establishing that Metatherian and Eutherian Y chromosomes diverged from a common ancestor [28].
  • The Y chromosomes of the subspecies Mus musculus musculus and M. m. domesticus were distinguishable by a Zfy-1 restriction fragment polymorphism, which can be used to study their differing interactions with autosomal sex-determining genes [29].
  • Molecular and cytogenetic evidence for the location of Tdy and Hya on the mouse Y chromosome short arm [30].
  • However, an anomalous crossing-over event of this kind would only give rise to the observed result if the native homologue of the Sxr region were situated on the very minute short arm of the Y chromosome [31].

Analytical, diagnostic and therapeutic context of Y Chromosome


  1. Prevention of systemic lupus erythematosus in autoimmune BXSB mice by a transgene encoding I-E alpha chain. Merino, R., Iwamoto, M., Fossati, L., Muniesa, P., Araki, K., Takahashi, S., Huarte, J., Yamamura, K., Vassalli, J.D., Izui, S. J. Exp. Med. (1993) [Pubmed]
  2. The hypertensive Y chromosome elevates blood pressure in F11 normotensive rats. Ely, D.L., Daneshvar, H., Turner, M.E., Johnson, M.L., Salisbury, R.L. Hypertension (1993) [Pubmed]
  3. H-2-linked control of the Yaa gene-induced acceleration of lupus-like autoimmune disease in BXSB mice. Merino, R., Fossati, L., Lacour, M., Lemoine, R., Higaki, M., Izui, S. Eur. J. Immunol. (1992) [Pubmed]
  4. Mitotic chromosome organization of neuroblastomas induced by the recessive oncogene Lethal(2)giant larvae4 of Drosophila melanogaster. Radhakrishnan, V., Sinha, P. Chromosoma (1987) [Pubmed]
  5. Preferential Y chromosomal location of TRIM, a novel transposable element of Drosophila miranda, obscura group. Steinemann, M., Steinemann, S. Chromosoma (1991) [Pubmed]
  6. Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway. Kuroki, Y., Toyoda, A., Noguchi, H., Taylor, T.D., Itoh, T., Kim, D.S., Kim, D.W., Choi, S.H., Kim, I.C., Choi, H.H., Kim, Y.S., Satta, Y., Saitou, N., Yamada, T., Morishita, S., Hattori, M., Sakaki, Y., Park, H.S., Fujiyama, A. Nat. Genet. (2006) [Pubmed]
  7. Evidence that positive selection drives Y-chromosome degeneration in Drosophila miranda. Bachtrog, D. Nat. Genet. (2004) [Pubmed]
  8. Chimerism of the transplanted heart. Quaini, F., Urbanek, K., Beltrami, A.P., Finato, N., Beltrami, C.A., Nadal-Ginard, B., Kajstura, J., Leri, A., Anversa, P. N. Engl. J. Med. (2002) [Pubmed]
  9. A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse. Bishop, C.E., Whitworth, D.J., Qin, Y., Agoulnik, A.I., Agoulnik, I.U., Harrison, W.R., Behringer, R.R., Overbeek, P.A. Nat. Genet. (2000) [Pubmed]
  10. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Shears, D.J., Vassal, H.J., Goodman, F.R., Palmer, R.W., Reardon, W., Superti-Furga, A., Scambler, P.J., Winter, R.M. Nat. Genet. (1998) [Pubmed]
  11. Comparison between the molecular characteristics and the potential activity of X and Y nucleolar organizers from various Drosophila melanogaster laboratory lines. Rosenberg-Bourgin, M., Paumard, S., Bracone, A., Contesse, G. Biol. Cell (1988) [Pubmed]
  12. Sex chromosomes do not influence renal injury in borderline hypertensive rats. Van Liew, J.B., Feld, L.G. Nephron (1996) [Pubmed]
  13. Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal. Eicher, E.M., Washburn, L.L., Schork, N.J., Lee, B.K., Shown, E.P., Xu, X., Dredge, R.D., Pringle, M.J., Page, D.C. Nat. Genet. (1996) [Pubmed]
  14. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Incerti, B., Guioli, S., Pragliola, A., Zanaria, E., Borsani, G., Tonlorenzi, R., Bardoni, B., Franco, B., Wheeler, D., Ballabio, A. Nat. Genet. (1992) [Pubmed]
  15. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Cooke, H.J., Brown, W.R., Rappold, G.A. Nature (1985) [Pubmed]
  16. The two candidate testis-determining Y genes (Zfy-1 and Zfy-2) are differentially expressed in fetal and adult mouse tissues. Nagamine, C.M., Chan, K., Hake, L.E., Lau, Y.F. Genes Dev. (1990) [Pubmed]
  17. Dendritic cells permit identification of genes encoding MHC class II-restricted epitopes of transplantation antigens. Scott, D., Addey, C., Ellis, P., James, E., Mitchell, M.J., Saut, N., Jurcevic, S., Simpson, E. Immunity (2000) [Pubmed]
  18. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Ma, K., Inglis, J.D., Sharkey, A., Bickmore, W.A., Hill, R.E., Prosser, E.J., Speed, R.M., Thomson, E.J., Jobling, M., Taylor, K. Cell (1993) [Pubmed]
  19. Actin-like sequences are present on human X and Y chromosomes. Heilig, R., Hanauer, A., Grzeschik, K.H., Hors-Cayla, M.C., Mandel, J.L. EMBO J. (1984) [Pubmed]
  20. Age-dependent inclusion of sex chromosomes in lymphocyte micronuclei of man. Catalán, J., Autio, K., Kuosma, E., Norppa, H. Am. J. Hum. Genet. (1998) [Pubmed]
  21. Sex- and tissue-specific Bkm(GATA)-binding protein in the germ cells of heterogametic sex. Singh, L., Wadhwa, R., Naidu, S., Nagaraj, R., Ganesan, M. J. Biol. Chem. (1994) [Pubmed]
  22. Comparison of gene expression in male and female mouse blastocysts revealed imprinting of the X-linked gene, Rhox5/Pem, at preimplantation stages. Kobayashi, S., Isotani, A., Mise, N., Yamamoto, M., Fujihara, Y., Kaseda, K., Nakanishi, T., Ikawa, M., Hamada, H., Abe, K., Okabe, M. Curr. Biol. (2006) [Pubmed]
  23. Testosterone effects on renal norepinephrine content and release in rats with different Y chromosomes. Jones, T.J., Dunphy, G., Milsted, A., Ely, D. Hypertension (1998) [Pubmed]
  24. Potentially active copies of the gypsy retroelement are confined to the Y chromosome of some strains of Drosophila melanogaster possibly as the result of the female-specific effect of the flamenco gene. Chalvet, F., di Franco, C., Terrinoni, A., Pelisson, A., Junakovic, N., Bucheton, A. J. Mol. Evol. (1998) [Pubmed]
  25. Detection of Y chromosome by in situ hybridization in combination with membrane antigens by two-color immunofluorescence. van den Berg, H., Vossen, J.M., Langlois van den Bergh, R., Bayer, J., van Tol, M.J. Lab. Invest. (1991) [Pubmed]
  26. Chromosome painting of Y chromosomes and isolation of a Y chromosome-specific repetitive sequence in the dioecious plant Rumex acetosa. Shibata, F., Hizume, M., Kuroki, Y. Chromosoma (1999) [Pubmed]
  27. An H-YDb epitope is encoded by a novel mouse Y chromosome gene. Greenfield, A., Scott, D., Pennisi, D., Ehrmann, I., Ellis, P., Cooper, L., Simpson, E., Koopman, P. Nat. Genet. (1996) [Pubmed]
  28. Marsupial Y chromosome encodes a homologue of the mouse Y-linked candidate spermatogenesis gene Ube1y. Mitchell, M.J., Woods, D.R., Wilcox, S.A., Graves, J.A., Bishop, C.E. Nature (1992) [Pubmed]
  29. Duplication, deletion, and polymorphism in the sex-determining region of the mouse Y chromosome. Mardon, G., Mosher, R., Disteche, C.M., Nishioka, Y., McLaren, A., Page, D.C. Science (1989) [Pubmed]
  30. Molecular and cytogenetic evidence for the location of Tdy and Hya on the mouse Y chromosome short arm. Roberts, C., Weith, A., Passage, E., Michot, J.L., Mattei, M.G., Bishop, C.E. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  31. Location of the genes controlling H-Y antigen expression and testis determination on the mouse Y chromosome. McLaren, A., Simpson, E., Epplen, J.T., Studer, R., Koopman, P., Evans, E.P., Burgoyne, P.S. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  32. Hematopoietic stem cells contribute to the regeneration of renal tubules after renal ischemia-reperfusion injury in mice. Lin, F., Cordes, K., Li, L., Hood, L., Couser, W.G., Shankland, S.J., Igarashi, P. J. Am. Soc. Nephrol. (2003) [Pubmed]
  33. The effect of novel chromosome position and variable dose on the genetic behavior of the Responder (Rsp) element of the Segregation distorter (SD) system of Drosophila melanogaster. Lyttle, T.W. Genetics (1989) [Pubmed]
  34. The Y chromosomal fertility factor Threads in Drosophila hydei harbors a functional gene encoding an axonemal dynein beta heavy chain protein. Kurek, R., Reugels, A.M., Glätzer, K.H., Bünemann, H. Genetics (1998) [Pubmed]
  35. Long-term outcome of fetal cell transplantation on postinfarction ventricular remodeling and function. Yao, M., Dieterle, T., Hale, S.L., Dow, J.S., Kedes, L.H., Peterson, K.L., Kloner, R.A. J. Mol. Cell. Cardiol. (2003) [Pubmed]
  36. Cloning of the dmrt1 gene of Xiphophorus maculatus: dmY/dmrt1Y is not the master sex-determining gene in the platyfish. Veith, A.M., Froschauer, A., Körting, C., Nanda, I., Hanel, R., Schmid, M., Schartl, M., Volff, J.N. Gene (2003) [Pubmed]
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