Summary
H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titrs; a tendency toward reduced titers can also be detected in the 47,XXY Klinefelter syndrome. The existence of an intermediary titer was further substantiated by a quantitative absorption test applied to cells with the 49,XXXXY karyotype. It appears that in the presence of one Y chromosome, the H-Y antigen titer decreases with an increasing number of X chromosomes. In contrast, the H-Y antigen titer is increased if, at a given number of X chromosomes, the number of Y chromosomes is increased, as in the 47,XYY male. Consequently, patients with 48,XXYY chromosomes are in the male control range. The findings are interpreted under the hypothesis of a controlling or modifying influence of the sex chromosomes on the titer of H-Y antigen.
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Bernstein R, Koo GC, Wachtel SS (1980) Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries. Science 207:768–769
Fellous M, Günther E, Kemler R, Wiels J, Berger R, Guenet JL, Jacob H, Jacob F (1978) Association of the H-Y male antigen with β2-microglobulin in human lymphoid and differential mouse teratocarcinoma cell lines. J Exp Med 148:58–70
Fraccaro M, Kaijser K, Lindsten J (1960a) A child with 49 chromosomes. Lancet II:899–902
Fraccaro M, Kaijser K, Lindsten J (1960b) A child with 49 chromosomes. Lancet II:1303–1304
Fraccaro M, Lindsten J, Kaijser K (1962) A child with 49 chromosomes: further investigations. Lancet II:509
Müller CR, Migl B, Traupe H, Ropers HH (1980) X-linked steroid sulfatase: Evidence for different gene-dosage in males and females. Hum Genet 54:197–199
Ropers HH, Migl B, Zimmer J, Fraccaro M, Maraschio PP, Westerveld A (1981) Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet 57:354–356
Shapiro LJ, Mohandas T, Weiss R, Romero G (1979) Non-inactivation of an X-chromosome locus in man. Science 204:1224–1226
Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54:205–206
Urban E, Zenzes MT, Müller U, Wolf U (1981) Cell reorganization in vitro of heterosexual gonadal cocultures. Differentiation 18:161–168
Vigi V, Pinca A, Guerrini P, Scappaticci S, Volpato S (1978) Endocrine function and diagnostic problems in a prepubertal case of 48, XXYY. J Genet Hum 26:411–417
Wachtel SS, Koo GC, Breg WR, Elias S, Boyse EA, Miller OJ (1975) Expression of H-Y antigen in human males with two Y chromosomes. N Engl J Med 293:1070–1072
Wachtel SS, Koo GC, Breg WR, Genel M (1980) H-Y antigen in X,i(Xq) gonadal dysgenesis: Evidence of X-linked genes in testicular differentiation. Hum Genet 56:183–187
Wolf U (1980) Studies on H-Y antigen in disorders of sexual development. Actual Gynecol 11:95–105 (Paris: Masson)
Wolf U (1981) Genetic aspects of H-Y antigen. Hum Genet 58:25–28
Wolf U, Fraccaro M, Mayerová A, Hecht T, Maraschio P, Hameister H (1980a) A gene controlling H-Y antigen on the X chromosome. Hum Genet 54:149–154
Wolf U, Fraccaro M, Mayerová A, Hecht T, Zuffardi O, Hameister H (1980b) Turner syndrome patients are H-Y positive. Hum Genet 54:315–318
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Fraccaro, M., Mayerová, A., Wolf, U. et al. Correlation between the number of sex chromosomes and the H-Y antigen titer. Hum Genet 61, 135–140 (1982). https://doi.org/10.1007/BF00274203
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DOI: https://doi.org/10.1007/BF00274203