Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11)

Cytogenetics and Cell Genetics

Volumn 75, Issue 2-3, 1996, Pages 197-206

  Kirsch, S ^a   Keil, R ^a   Edelmann, A ^a   Henegariu, O ^b   Hirschmann, P ^a   LePaslier, D ^c   Vogt, P H ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b INDIANA UNIVERSITY MEDICAL CENTER   (United States)

^c FONDATION JEAN DAUSSET CEPH   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME YQ; GENE MAPPING; HUMAN; MALE; MOLECULAR CLONING; PRIORITY JOURNAL; SOUTHERN BLOTTING; YEAST ARTIFICIAL CHROMOSOME;

CHROMATIN; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, YEAST; DNA; DNA PROBES; EUCHROMATIN; GENE AMPLIFICATION; GENE LIBRARY; HUMANS; NUCLEIC ACID HYBRIDIZATION; POLYMERASE CHAIN REACTION; Y CHROMOSOME;

EID: 0030452917     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134481     Document Type: Article

References (42)

1. Altara NA, Florentin L, Morrison N, Kwok K, Mitchell M, Cook A, Jamieson D, Glasgow L, Meredith L, Boyd E, Ferguson-Smith MA: Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucl Acids Res 14:5353-5374 (1986).
2. Altara NA, Fcrguson-Smith MA, Magcnis RE, Tolmie JL, Boyd E, Cooke A, Jamieson D, Kwok K, Mitchell M, Snadden L: Mapping the testis determinants by an analysis of Y specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucl Acids Res 15:7325-7342(1987).
3. Affara NA, Lau Y-FC, Briggs H, Davey P, Jones MH, Khwaja O, Mitchell M, Sargent C: Report of the First International Workshop on Y Chromosome Mapping 1994. Cytogcnet Cell Genet 67:360-402 (1994).
4. Albertsen HM, Abderrahint H, Cann HM, Dausset J, LePaslier D, Cohen D: Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc natl Acad Sei. USA 87:4256-4260 (1990).
5. Ballabio A, Bardoni B, Carrozzo R, Andria G, Persico G, Bick D, Campbell L, Ropers HH, Fcrguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuftardi O, Guioli S, Camerino G: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc natl Acad Sei. USA 86:10001 -10005 (1989).
6. Bardoni B, Zuftardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G: A deletion map of the human Yqll region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 11:443-451 (1991).
7. Bostock CJ, Gosden JR, Milchell AR: Localisation of a male-specific DNA fragment to a sub-region of the human Y chromosome. Nature 272:324-328 (1978).
8. Cheng S-D, Gasparini R, Müller U: Molecular analysis of aberrations of Xp and Yq. Hum Genet 88:379- 382(1992).
9. Cooke H: Repeated sequence specific to human males. Nature 262:182-186 (1976).
10. Cooke HJ, Schmidtke J, Gosden JR: Characterization of a human Y chromosome repeated sequence and related sequences in higher primates. Chromosoma 87:491-502(1982).
11. Deininger PL, Jolly DJ, Rubin CM, Friedmann T, Schmid CW: Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J mo-lecBiol 151:17-33(1981).
12. Dontbrowski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH Jr.: Isolation of an active human transposable element. Science 254:1805-1808 (1991).
13. Ferguson-Smith MA, Affara NA, Magenis RE: Ordering of Y specific sequences by deletion mapping and analysis of X-Y interchange males and females. Development 101 (supplement):41-50 (1987).
14. Foote S, Vollrath D, Hilton A, Page DC: The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science 258:60-66 (1992).
15. Ganshirt-Ahlert D, Pawlowitzki IH, Gal A: Three cases of 45, X46.XYnf mosaicism. Hum Genet 76:153-156(1987).
16. Henegariu O, Hirschmann P, Kilian K, Kirsch S, Len-gauer C, Maiwald R, Mielke K, Vogt P: Rapid screening of the Y-chromosome in idiopathic sterile man, diagnostic for deletions in AZF. a genetic Y-factor expressed during spermatogenesis. Andrologia 26:97-106 (1994).
17. Jobling MA: A survey of long-range DNA polymorphisms on the human Y chromosome. Hum mol Genet 3:107-114(1994).
18. Jones MIL Khwaja OSA, Briggs H, Lambson B, Davey PM, Chalmers J, Zhou C-Y, Walker EM, Zhang Y, Todd C, Ferguson-Smith MA, Altara NA: A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromalin. Genomics 24:266-275 (1994).
19. Knowlton RG, Nelson CA, Brown VA, Page DC, Donis Keller H: An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome. Nucl Acids Res 17:423(1989).
20. Koenig M, Camerino G, Heilig R, MandeL JL: A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosome long arm. Nucl Acids Res 12:40-97(1984).
21. Kwiatkowski TJ Jr., Zoghbi HY, Ledbetter SA, Ellison KA, Chinault AC: Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PC'R. Nucl Acids Res 18:7191 (1990).
22. Ma K, Sharkey A, Kirsch S, Vogt P, Keil R, Hargreave TB, McBeath S, Chandley AC: Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum molcc Genet 1:29-33 (1992).
23. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, Wolfe J, Cooke HJ, Hargreave TB, Chandley AC: A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75:1287-1295(1993).
24. Maiwald R, Secbacher T, Edelmann A, Hirschmann P, Köhler MR, Kirsch S, Vogt P: A human Y-chromo-somal gene mapping to distal Yql I is expressed in spermatogenesis. Abstract in: Report of the Second International Workshop on Y Chromosome Mapping. Cylogenet Cell Genet 73:33-76 (1996).
25. Milchell GA, Labuda D, Fontaine G, Saudubray JM, Bonnefonl JP, Lvonnct S, Brody LC, Steel G, Obie C, Valle D: Splice-mediated insertion of an Alu sequence inactivates omithine-aminolransferase: A role for Alu elements in human mutation. Proc nail Acad Sei. USA 88:815-819 (1991).
26. Müller U, Donlon T, Schmid M, Fitch N, Richer C-L, Lalande M, Latl SA: Deletion mapping of the testis determining locus with DNA probes in 46.XX males and in 46.XY and 46.X. dic(Y) females. Nucl Acids Res 14:6489 (1986a).
27. Müller U, Lalande M, Donlon T, Latt SA: Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucl Acids Res 14:1325 (1986b).
28. Müller U. Fontaine D, Adinolfi M. Fraccaro M, Lalande M: Analysis of complex Y chromosome aberrations using a single DNA probe (Y-367). Cyto-genet Cell Genet 50:161 -164 (1989).
29. Müller U, Lalande M: A physical map of the human Y-chromosomc short arm. Genomics 7:517-523 (1990).
30. O'Reilly NJ, Altara NA, Simpson E, Chandler P, Goulmy E, Ferguson-Smith MA: A molecular deletion map of the Y chromosome long arm defining X and autosomal homologous regions and the localization of the HYA locus to the proximal region of the Yq euchromalin. Hum molec Gen 1:379-385 (1992).
31. Oakey R, Tyler-Smillt C: Y chromosome DNA haplo-lyping suggests that niosl European and Asian men are descended from one of two males. Genomics 7:325-330(1990).
32. Reijo R, Lee T-Y, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jafte T, Straus D, Hovatta O, dc la Chapelle A, Silber S, Page DC: Diverse spematogcnic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding prolein gene. Nature Genet 10:383- 393(1995).
33. Scherer G, Schcmpp W, Fraccaro M, Bausch E, Bigozzi V, Maraschio P, Montali E, Simuni G, Wolf U: Analysis of two 47.XXX males reveals X-Y interchange and maternal or paternal nondisjunction. Hum Genet 81:247-251 (1989).
34. Taylor K, Homigold N, Conway D, Williams D, Uli-nowski Z, Agochiya M, Fattorini P, de Jong P, Tittle PFR, Wolfe J: Mapping the human Y chromosome by fingerprinting cosmid clones. Genome Res 6:235-248 (1996).
35. Tyler-Smith C, Oakcy RJ, Larin Z, Fisher RB, Crocker M, Afffara NA, Ferguson-Smith MA, Muenke M, ZufTardi O, Jobling MA: Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nature Genet 5:368-375 (1993).
36. Vergnaud G, Page DC, Simmler M-C, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A, Weissenbach J: A deletion map of the human chromosome based on DNA hybridization. Am J hum Genet 38:109-124(1986).
37. Vogt P, Keil R, Köhler M, Lengauer C, Lewe D, Lewe G: Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence ofDrosophila hydei.Hum Genet 86:341-349 (1991).
38. Vogl P: Human Y chromosome function in male germ cell development, (review). Adv Dev Biol 5: in press (1996).
39. Vogt P, Edelmann A, Kirsch S, Hcnegariu O, Hirschmann P, Kiesewetter F, Köhn F, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag F, Weidner W, Gröne H-J, Jung A, Engel W, Haidl G: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yql I. LIum mo-lec Genet 5:933-943 (1996).
40. Vollrath D, Foote S, Hilton A, Brown LG. Beer Romero P, Bogan JS, Page DC: The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 258:52-59 (1992).
41. Wolfe J, Erickson RP, Rigby PWJ, Goodfellow PN: Regional localization of 3 Y-dcrived sequences on the human X and Y chromosomes. Ann hum Genet 48:253-259 (1984).
42. Wolfe C, Darling SM, Erickson RP, Craig IW, Buckle VJ, Rigby PWJ, Willard HF, Goodfellow PN: Isolation and characterization of an alphoid centro-meric repeat family from the human Y chromosome. J molecBiol 182:477-485(1985).