Abstract
Applying fluorescence in-situ hybridization (FISH) of various Y chromosomal DNA probes to four familial cases of human Yqs, it was possible to demonstrate that the formation of Yqs must have arisen from a reciprocal translocation involving the short arm of an acrocentric autosome and the heterochromatin of the long arm of the Y chromosome (Yqh). Breakpoints map within Yqh and the proximal short arm of an acrocentric autosome resulting in the gain of a nucleolus organizer region (NOR) including the telomere repeat (TTAGGG)n combined with the loss of the pseudoautosomal region 2 (PAR2) at the long arm of the recipient Y chromosome. In no case could the reciprocal product of an acrocentric autosome with loss of the NOR and gain of PAR2 be detected. Using the 15p-specific classical satellite-III probe D15Z1 in two of the four Yqs probands presented here, it could be shown that the satellited material originated from the short arm of chromosome 15. In contrast to the loss of PAR2 in Yqs chromosomes, another Y chromosomal variant (Yqh-) showing deletion of long-arm heterochromatin in Yq12 has retained PAR2 referring to an interstitial deletion of Yq heterochromatin in such deleted Y chromosomes.
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Brown WRA, MacKinnon PJ, Villasanteé, Spurr N, Buckle W, Dobson MJ (1990) Structure and polymorphism of human telomere-associated DNA. Cell 63: 11–132.
Chandley AC, Gosden JR, Hargreave TB, Sporwart G, Speed RM, McBeath C (1989). Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). J Med Genet 26: 14–153.
Ciccodicola A, D'Esposito M, Esposito T et al. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet 9: 39–401.
Couturier-Turpin MH, Ingster O, Salat-Baroux J, Feldmann G (1994) Report of a family case of satellited Y chromosome associated with severe oligoasthenoteratospermia. A review of the literature. Ann Genet 37: 20–206.
Dutrillaux B, Laurent C, Couturier J, Lejeune L (1973) Coloration par l'acridine orange de chromosomes pre¨ alablement traite¨ s par le 5–bromode¨ oxyuridine (BudR). CR Acad Sci III 276: 31 79–181.
Freije D, Helms C, Watson MS, Donis-Keller H (1992) Identi-¢cation of a second pseudoautosomal region near the Xq and Yq telomeres. Science 258: 178–1787.
Genest P, Bouchard M, Bouchard J (1967) A satellited human Y chromosome. Lancet I: 127–1280.
GlÌser B, Yen PH, Schempp W(1998) Fibre-£uorescence in situ hybridization unravels apparently seven DAZ genes or pseudogenes clustered within a Y-chromosome region frequently deleted in azoospermic males. Chromosome Res 6: 48–486.
Goodpasture C, Bloom SE (1975) Visualization of nucleolar organizer regions in mammalian chromosomes using silver staining. Chromosoma 53: 3–50.
Haaf T, Feichtinger W, Guttenbach M, Sanchez L, MÏller CR, Schmid M (1989) Berenil-induced undercondensation in human heterochromatin. Cytogenet Cell Genet 50: 2–33.
Ried T, Lengauer C, Cremer T et al. (1992) Speci¢c metaphase and interphase detection of the breakpoint region in 8q24 of Burkitt lymphoma cells by triple-color £uorescent in situ hybridization. Genes Chrom Cancer 4: 6–74.
Schempp W, Meer B (1983) Cytologic evidence for three human X chromosomal segments escaping inactivation. Hum Genet 63: 17–174.
Schempp W, Binkele A, Amemann J et al. (1995) Comparative mapping of YRRM-and TSPY-related cosmids in man and hominoid apes. Chromosome Res 3: 22–234.
Schiebel K, Weiss B, WÎhrle D, Rappold GA (1993) A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Nature Genet 3: 8–87.
Schmid M, Haaf T, Solleder E, Schempp W, Leipoldt M, Heilbronner H (1984) Satellited Y chromosomes: Structure, origin, and clinical signi¢cance. Hum Genet 67: 7–85.
Smeets DFCM, Merks GFM, Hopman AHM (1991) Frequent ocurrence of translocation of the short arm of chromosome 15 to other D-group chromosomes. Hum Genet 87: 4–48.
Stergianou K, Gould CP, Waters JJ, Hulte¨ n M (1992) High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14. Hum Genet 88: 364.
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75: 30–306.
Taylor K, Hornigold N, Conway D et al. (1996)Mapping the human Y chromosome by ¢ngerprinting cosmid clones. Genome Res 6: 23–248.
Turleau C, Chavin-Colin F, Seger J, Sorin M, Salet D, de Grouchy J (1978) Chromosome Y avec satellite (Yqs) et organisateur nucle¨ olaire survenu de novo. Annal Genet 21: 23–242.
Verma RS, Goginenei SK, Kleyman SM, Conte RA (1997) Characterisation of a satellited non-£uorescent Y chromo-some (Y[nfqs]) by FISH. J Med Genet 34: 81–818.
Wilkinson TA, Crolla JA (1993) Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum Genet 91: 38–391. 222 H. KÏhl et al.
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Kühl, H., Röttger, S., Heilbronner, H. et al. Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs). Chromosome Res 9, 215–222 (2001). https://doi.org/10.1023/A:1012219820317
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DOI: https://doi.org/10.1023/A:1012219820317