Hostname: page-component-745bb68f8f-b6zl4 Total loading time: 0 Render date: 2025-01-14T19:21:13.751Z Has data issue: false hasContentIssue false
  • English
  • Français

Cytogenetics and sex determination in man and mammals

Published online by Cambridge University Press:  27 September 2011

C. E. Ford
C. E. Ford
Affiliation:
Medical Research Council's Radiobiology Unit, Harwell, Didcot, Berkshire
Get access Rights & Permissions [Opens in a new window]

Summary

Sex in man and probably throughout the class mammalia is normally determined by the presence of a Y chromosome (male) or its absence (female). The presence of genetic loci on both the long and the short arm of the X chromosome in double dose appears to be essential for the development of mature functional ovaries in the human female though a single X suffices in the female mouse.

The development of masculine genital anatomy and phenotype is a consequence of prior formation of testes. In the absence of gonads of either kind, female internal and external genitalia are formed but secondary sex development fails. In rare human families a mutant gene suppresses the development of male external genitalia in 46, XY embryos but permits the development of testes and male internal genitalia. The external phenotype is normal female (syndrome of testicular feminization). A sex-linked mutant gene in the mouse has a similar effect.

The locus or loci directly concerned with male development might lie wholly on the Y chromosome or might be located on another chromosome or chromosomes. In the latter case it (or they) must be repressed in the female and normally activated by a locus or loci on the Y chromosome in the male. Present evidence does not permit the exclusion of either possibility.

Type
Genetic and environmental aspects
Information
Journal of Biosocial Science , Volume 2 , supplement S2: Biosocial Aspects of Sex , 1970 , pp. 7 - 30
Copyright
Copyright © Cambridge University Press 1970

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Barr, M.L. & Bertram, E.F. (1949) A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature, Lond. 163, 676.CrossRefGoogle ScholarPubMed
Biggers, J.D. & Mcfeely, R.A. (1966) Intersexuality in domestic mammals. Adv. reprod. Physiol. 1, 29.Google Scholar
Boczkowski, K., Janczewski, Z., Philip, J. & Mikklesen, M. (1969) A clinical and cytological study of XX male. Hereditas, 62, 285.CrossRefGoogle Scholar
Boczkowski, K. & Teter, J. (1966) Clinical, histological and cytogenetic observations in pure gonadal dysgenesis. Acta endocr., Copenh. 51, 497.Google Scholar
Breeuwsma, A.J. (1968) A case of XXY sex chromosome constitution in an intersex pig. J. Reprod. Fert. 16, 119.CrossRefGoogle Scholar
Bridges, C.B. (1938) Cytological and genetic basis of sex. Chap. 2. In: Sex and Internal Secretions. Edited by Allen, E., Danforth, C.H. and Doisy, E.A.. Williams & Wilkins, Baltimore.Google Scholar
Brøgger, A. & Aagenaes, O. (1965). The human Y chromosome and the etiology of true hermaphroditism. Hereditas, 53, 231.CrossRefGoogle Scholar
Brøgger, A. & Strand, A. (1965) Contribution to the study of the so-called pure gonadal dysgenesis. Acta endocr., Copenh. 48, 490.Google Scholar
Carr, D.H. (1967) Chromosome anomalies as a cause of spontaneous abortion. Am. J. Obstet. Gynec. 97, 283.CrossRefGoogle ScholarPubMed
Carr, D.H., Haggar, R.A. & Hart, A.G. (1968) Germ cells in the ovaries of XO female infants. Am. J. clin. Path. 49, 521.CrossRefGoogle ScholarPubMed
Castro-Sierra, E. & Wolf, U. (1967) Replication patterns of the unpaired chromosome No. 9 of the rodent Ellobius lutescens TH. Cytogenetics, 6, 268.CrossRefGoogle ScholarPubMed
Cattanach, B.M. (1962) XO mice. Genet. Res. 3, 487.CrossRefGoogle Scholar
Cattanach, B.M. & Pollard, C.E. (1969) An XYY sex-chromosome constitution in the mouse. Cytogenetics, 8, 80.CrossRefGoogle ScholarPubMed
Chicago Conference (1966) Standardisation in human cytogenetics. (Birth defects: Original article series 2, No. 2). The National Foundation, New York.Google Scholar
Corey, M.J., Miller, J.R., Mclean, J.R. & Chown, B. (1967) A case of XX/XY mosaicism. Am. J. hum. Genet. 19, 378.Google ScholarPubMed
Court-Brown, W.M. (1968) Males with an XYY sex chromosome complement. J. med. Genet. 5, 341.CrossRefGoogle Scholar
Court-Brown, W.M. (1969) Sex chromosome aneuploidy in man and its frequency, with special reference to mental subnormality and clinical behaviour. Int. Rev. exp. Path 7, 31.Google Scholar
Darlington, C.D. (1937) Recent Advances in Cytology. Churchill, London.Google Scholar
Darlington, C.D. (1939) Evolution of Genetic Systems. Oliver & Boyd, Edinburgh.Google Scholar
Edwards, J.H., Dent, T. & Kahn, J. (1966) Monozygotic twins of different sex. J. med. Genet. 3, 117.CrossRefGoogle ScholarPubMed
Evans, H.J., Ford, C.E., Lyon, M.F. & Gray, J. (1965) DNA replication and genetic expression in female mice with morphologically distinguishable chromosomes. Nature, Lond. 206, 900.CrossRefGoogle ScholarPubMed
Evans, E.P., Ford, C.E. & Searle, A.G. (1969) A 39, X/41, XYY mosaic mouse. Cytogenetics, 8, 87.CrossRefGoogle ScholarPubMed
Ferguson-Smith, M.A. (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet. 2, 142.CrossRefGoogle ScholarPubMed
Ferguson-Smith, M.A. (1966) X–Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet, ii, 475.CrossRefGoogle Scholar
Fischer, P., Golob, E. & Holzner, H. (1969) XY gonadal dysgenesis and malignancy. Lancet, ii, 110.CrossRefGoogle Scholar
Ford, C. E. (1961) Die Zytogenese der Intersexualität des Menschen. In: Die Intersexualität. Edited by Overzier, C.. Georg Thieme, Stuttgart.Google Scholar
Ford, C.E. (1969) Mosaics and chimaeras. Br. med. Bull. 25, 104.CrossRefGoogle ScholarPubMed
Ford, C.E. (1970) Genetic activity of the sex chromosomes in germinal cells. Proc. R. Soc. B (in press).Google Scholar
Ford, C.E., Jones, K.W., Polani, P.E., De Almeida, J.C.C. & Briggs, J.H. (1959) A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet, i, 711.CrossRefGoogle Scholar
Fraccaro, M., Taylor, A.I., Bodian, M. & Newns, G.H. (1962) A human intersex ‘true hermaphrodite’ with XX/XXY/XXYYY sex chromosomes. Cytogenetics, 1, 104.CrossRefGoogle Scholar
Fredga, K. (1970) Unusual sex chromosome inheritance in mammals. Proc. R. Soc. B (in press).Google Scholar
Frøland, A. (1969) Klinefelter's syndrome. Costers Bogtykkeri, Copenhagen. (Also published as a supplement to Dan. med. Bull. 16, 1969.)Google Scholar
Gardner, R.L. (1968) Mouse chimaeras obtained by injection of cells into the blastocyst. Nature, Lond. 220, 596.CrossRefGoogle ScholarPubMed
Gartler, S.M., Waxman, S.H. & Giblett, E. (1962) An XX/XY human hermaphrodite resulting from double fertilization. Proc. natn. Acad. Sci. U.S.A. 48, 332.CrossRefGoogle Scholar
Gerald, P.S. & Walzer, S. (1970) Chromosome abnormalities in phenotypically normal newborns. In: Human Population Cytogenetics. Medical Monographs, 4. University Press, Edinburgh.Google Scholar
Giblett, E.R., Gartler, S.M. & Waxman, S.H. (1963) Blood group studies of an XX/XY true hermaphrodite with generalised tissue mosaicism. Am. J. hum. Genet. 15, 62.Google Scholar
Goldschmidt, R.B. (1956) Theoretical Genetics. University of California Press, Berkeley and Los Angeles.Google Scholar
De Grouchy, J., Brissaud, H.E., Richardet, J.M., Repéssé, G., Sanger, R., Race, R.R., Salmon, C. & Salmon, D. (1968) Syndrome 48, XXXX chez une enfant de six ans. Transmission anormale du groupe Xg. Annls Génét. 11, 120.Google Scholar
Grüneberg, H. (1967) Gene action in the mammalian X-chromosome. Genet. Res. 9, 343.CrossRefGoogle ScholarPubMed
Hambert, G. (1966) Males with positive sex chromatin. Report from the Psychiatric Research Centre, University of Götenborg.Google Scholar
Hamerton, J.L. (1968) Significance of sex chromosome derived heterochromatin. Nature, Lond. 219, 910.CrossRefGoogle ScholarPubMed
Harnden, D.G. & Stewart, J.S.S. (1959) The chromosomes in a case of pure gonadal dysgenesis. Br. med. J. ii, 1285.CrossRefGoogle Scholar
Jacobs, P.A. (1969) Structural abnormalities of the sex chromosome. Br. med. Bull. 25, 94.CrossRefGoogle Scholar
Jacobs, P.A., Brunton, M.M., Melville, M.M., Brittain, R.P. & Mcclemont, W.F. (1965) Aggressive behaviour, mental subnormality and the XYY male. Nature, Lond. 208, 1351.CrossRefGoogle ScholarPubMed
Jacobs, P. A. & Ross, A. (1966) Structural abnormalities of the Y chromosome in man. Nature, Lond. 210, 352.CrossRefGoogle Scholar
Jacobs, P. A. & Strong, J.A. (1959) A case of human intersexuality having a possible XXY sexdetermining mechanism. Nature, Lond. 183, 302.CrossRefGoogle ScholarPubMed
Jones, H.W., Turner, H.H. & Ferguson-Smith, M.A. (1966) Turner's syndrome and phenotype. Lancet, i, 1155.CrossRefGoogle Scholar
Jost, A. (1947) Recherches sur la differentiation sexualle de l'embryo du lapin. III. Rôle des gonades foetales dans la differentiation sexualle somatique. Archs Anat. microsc. Morph. exp. 36, 271.Google Scholar
Kjessler, B. (1966) Karyotype, Meiosis and Spermatogenesis in a Sample of Men Attending an Infertility Clinic. Karger, Basel.Google Scholar
Lejeune, J. & Abonyi, J. (1968) Syndrome 48, XXXX chez une fille de quatorze ans. Annls Génét. 11, 117.Google Scholar
Lejeune, J., Berger, R., Rethore, M.-O., Vialette, J. & Salmon, C. (1966) Sur un cas d'hermaphroditism XX/XY. Annls Génét. 9, 171.Google Scholar
Lindsten, J. (1963) The Nature and Origin of X Chromosome Aberrations in Turner's Syndrome. A Cytogenetic and Clinical Study of 57 Patients. Almqvist & Wiksell, Stockholm.Google Scholar
Lubs, H.A. (1970) Chromosome variations in 4,000 consecutive newborns. In: Human Population Cytogenetics. Medical Monographs, 4. University Press, Edinburgh.Google Scholar
Lyon, M.F. (1961) Sex chromatin and gene action in the mammalian X-chromosome of the mouse (Mus musculus L). Nature, Lond. 190, 372.CrossRefGoogle Scholar
Lyon, M.F. (1968) Chromosomal and subchromosomal inactivation. A. Rev. Genet. 2, 31.CrossRefGoogle Scholar
Mackay, E.V., Cockburn, K.G. & Biggs, J.G.S. (1967) Clinical and chromosomal study of 4 patients with XX/XO mosaicism. Aust. N.Z. J. Obst. Gynaec. 7, 64.CrossRefGoogle ScholarPubMed
Mclaren, A. & Bowman, P. (1969) Mouse chimaeras derived from fusion of embryos differing by nine genetic markers. Nature, Lond. 224, 238.CrossRefGoogle Scholar
Mikklesen, M., Frøland, A. & Ellebjerg, J. (1963) XO/XX mosaicism in a pair of presumably monozygotic twins with different phenotypes. Cytogenetics, 2, 86.CrossRefGoogle Scholar
Miller, O. J. (1967) The sex chromosome anomalies. Adv. Obstet. Gynaec. 1, 494.Google Scholar
Mintz, B. (1957) Embryological development of primordial germ cells in the mouse: influence of a new mutation, W. J. Embryol. exp. Morph. 5, 396.Google Scholar
Mintz, B. (1962) Formation of genotypically mosaic mouse embryos. Am. Zoologist, 2, 432.Google Scholar
Mintz, B. (1965) Nucleic acid and protein synthesis in the developing mouse embryo. In: Preimplantation Stages of Pregnancy. Edited by Wolstenholme, G.E.W. and O'Connor, M.. Churchill, London.Google Scholar
Mintz, B. (1968) Hermaphroditism, sex chromosomal mosaicism and germ cell selection in allophenic mice. J. Anim. Sci. 27, Suppl. 51.Google ScholarPubMed
Mittwoch, U. (1967) Sex Chromosomes. Academic Press, New York.CrossRefGoogle Scholar
Morishima, A. & Grumbach, M.M. (1968) The interrelationship of sex chromosome constitution and phenotype in the syndrome of gonadal dysgenesis and its variants. Ann. N. Y. Acad. Sci. 155, 695.CrossRefGoogle Scholar
Morris, J.M. (1953) The syndrome of testicular feminisation in male pseudohermaphrodites. Am. J. Obstet. Gynec. 65, 1192.CrossRefGoogle ScholarPubMed
Morris, J.M. & Mahesh, V.B. (1963) Further observations on the syndrome ‘testicular feminisation’. Am. J. Obstet. Gynec. 87, 731.Google Scholar
Morris, T. (1968) The XO and OY chromosome constitutions in the mouse. Genet. Res. 12, 125.CrossRefGoogle ScholarPubMed
Mystkowska, E.T. & Tarkowski, A.K. (1968) Observations on CBA-p/CBA-T6T6 mouse chimaeras. J. Embryol. exp. Morph. 20, 33.Google Scholar
Neimann, N. & Fonder, A. (1967) L'Hermaphrodisme. Pédiatrie, 22, 499.Google Scholar
Northcutt, R.C., Island, D.P. & Liddle, G.W. (1969) An explanation for the target organ unresponsiveness to testosterone in testicular feminization syndrome. J. clin. Endocr. 29, 422.CrossRefGoogle ScholarPubMed
Ohno, S. & Cattanach, B.M. (1962) Cytogenetic study of an X-autosome translocation in Mus musculus. Cytogenetics, 1, 129.CrossRefGoogle ScholarPubMed
Ohno, S., Jainchill, J. & Stenius, C. (1963) The creeping vole as a gonosomic mosaic. I. The OY/XY constitution of the male. Cytogenetics, 2, 232.CrossRefGoogle ScholarPubMed
Ohno, S., Kaplan, W.D. & Kinosita, R. (1959) Formation of the sex chromatin from a single X-chromosome in liver cells of Rattus norvegicus. Exp. Cell Res. 18, 415.CrossRefGoogle ScholarPubMed
Ohno, S., Stenius, C. & Christian, L. (1966) The XO as the normal female of the creeping vole (Microtus oregoni). In: Chromosomes Today. Edited by Darlington, C.D. and Lewis, K.R.. Oliver & Boyd, Edinburgh.Google Scholar
Overzier, C. (1963) True hermaphroditism. In: Intersexuality. Edited by Overzier, C.. Academic Press, London.Google Scholar
Polani, P.E. (1968) Cancer and sex chromosomes. Br. med. J. iii, 312.CrossRefGoogle Scholar
Polani, P.E. (1970) Hormonal and clinical aspects of hermaphroditism and the testicular feminising syndrome in man. Proc. R. Soc. B (in press).Google Scholar
Race, R.R. & Sanger, R. (1968) Blood Groups in Man, 5th edn. Blackwell Scientific Publications, Oxford.Google Scholar
Race, R.R. & Sanger, R. (1969) Xg and sex chromosome abnormalities. Br. med. Bull, 25, 99.CrossRefGoogle ScholarPubMed
Root, A.W., Eberlein, W.R., Briebart, S., Moorhead, P.S. & Mellman, W.J. (1964) Chromosomal analysis of multiple tissue from a true hermaphrodite, J. clin. Endocr. 24, 467.CrossRefGoogle ScholarPubMed
Russell, L.B. & Chu, E.H.Y. (1961) An XXY male in the mouse. Proc. natn. Acad. Sci. U.S.A. 47, 571.CrossRefGoogle ScholarPubMed
Russell, W.L., Russell, L.B. & Gower, J.S. (1959) Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the X/O constitution is female. Proc. natn. Acad. Sci. U.S.A. 45, 554.CrossRefGoogle ScholarPubMed
Sanger, R., Tippett, P., Gavin, J., Gooch, A. & Race, R.R. (1969) Inheritance of testicular feminisation syndrome: some negative linkage findings. J. med. Genet. 6, 26.CrossRefGoogle ScholarPubMed
Sharman, G.B. (1956) Chromosomes of the common shrew. Nature, Lond. 177, 941.CrossRefGoogle ScholarPubMed
Sharman, G.B., Robinson, E.S., Walton, S.M. & Berger, P.J. (1970) The sex chromosomes and reproductive anatomy of some intersexual marsupials. J. Reprod. Fert. 21, 57.CrossRefGoogle ScholarPubMed
Singh, R.P. & Carr, D.H. (1966) The anatomy and histology of XO human embryos and fetuses. Anat. Rec. 155, 369.CrossRefGoogle ScholarPubMed
Starkman, M.N. & Jaffe, R.B. (1967) Chromosome aberrations in XO/XY mosaic individuals and their fathers. Am. J. Obstet. Gynec. 99, 1056.CrossRefGoogle ScholarPubMed
Sternberg, W.H., Barclay, D.L. & Kloepfer, H.W. (1968) Familial XY gonadal dysgenesis. New Engl. J. Med. 278, 695.CrossRefGoogle ScholarPubMed
Tarkowski, A.K. (1961) Mouse chimaeras developed from fused eggs. Nature, Lond. 190, 857.CrossRefGoogle ScholarPubMed
Tarkowski, A.K. (1964) True hermaphroditism in chimaeric mice. J. Embryol. exp. Morph. 12, 735.Google ScholarPubMed
Tazima, Y. (1964) The Genetics of the Silkworm. Logos Press, London.Google Scholar
Teter, J. & Boczkowski, K. (1967). Occurrence of tumours in dysgenetic gonads. Cancer Res. 20, 1301.Google ScholarPubMed
Therkelsen, A.J. (1964) Sterile male with the chromosome constitution 46.XX. Cytogenetics, 3, 207.CrossRefGoogle Scholar
Thuline, H.C. & Norby, D.E. (1961) Spontaneous occurrence of chromosome abnormality in cats. Science, N. Y. 134, 554.CrossRefGoogle ScholarPubMed
Townes, P.L., Ziegler, N.A. & Lenhard, L.W. (1965) A patient with 48 chromosomes (XYYY). Lancet, i, 1041.CrossRefGoogle Scholar
Turpin, R., Lejeune, J., Lafourcade, J., Chigot, P.L. & Salmon, C.H. (1961) Présomption de monozygotisme en dépit d'une dimorphisme sexual; sujet masculin XY et sujet neutre, haplo X. C.r. hebd. Séanc. Acad. Sci., Paris, 252, 2945.Google Scholar
Westergaard, M. (1958) The mechanism of sex differentiation in dioecious flowering plants. Adv. Genet. 9, 217.CrossRefGoogle Scholar