Abstract
The Y chromosome is a small acrocentric chromosome whose chromatids tend to adhere in metaphase spreads because of the presence of a large block of heterochromatin. This makes up the distal half or so of the long arm and is visible by most C-banding procedures. It is especially bright by Q-banding, due to the AT-richness of its satellite DNA (Fig. 17.1). The Y chromosome contains some DNA sequences that are found only on the Y It is therefore possible to look for Y-DNA in maternal blood during and after pregnancy. Y-DNA is detectable as early as 5–7 weeks of gestation and disappears by 2 months post partum (Thomas et al., 1995). There is, on average, only about one fetal cell per ml of blood in pregnancies with a normal fetus. However, the number is more than five times as high, on average, in pregnancies with a 21-trisomic fetus (Bianchi et al., 1997). Fetal DNA appears to enter the maternal circulation in the form of viable cells. A number of groups have used powerful fluorescence-activated flow sorting to isolate the fetal cells, but the cells’ rarity has limited the development of this approach for early prenatal diagnosis. However, it has been used to diagnose trisomy 21 (Elias et al., 1992).
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References
Abbas N, Novelli G, Stella NC, et al. (1990) A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1. Hum Genet 86:94–98
Bernstein R, Wadee A, Rosendorff J, et al. (1986) Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa. Hum Genet 74:223–229
Bianchi DW, Williams JM, Sullivan LM, et al. (1997) PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 61:822–829
Braun A, Kammerer S, Cleve H, et al. (1993) True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am J Hum Genet 52:578–585
Brown CJ, Carrel L, Willard HF (1997) Expression of genes from the human active and inactive X chromosomes. Am J Hum Genet 60:1333–1343
Brown CJ, Goss SJ, Lubahn DB, et al. (1989) Androgen receptor locus on the human X chromosome: regional localization to Xq11–12 and description of a DNA polymorphism. Am J Hum Genet 44:264–269
Burgoyne PS (1998) The mammalian Y chromosome: a new perspective. BioEssays 20:363–366
Chandley AC (1998) Chromosome anomalies and Y chromosome microdele-tions as causal factors in male infertility. Hum Reprod 13Supp 1:45–50
Chandley AC, Goetz P, Hargreave TB, et al. (1984) On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet 38:241–247
Damiani D, Billerbeck AEC, Goldberg ACK, et al. (1990) Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. Hum Genet 85:85–88
Disteche CM, Casanova M, Saal H, et al. (1986) Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci USA 83:7841–7844
Dutrillaux B (1977) New chromosome techniques. In: Yunis JJ (ed) Molecular structure of human chromosomes. Academic, New York, pp 233–265
Elias S, Price J, Dockter M, et al. (1992) First trimester diagnosis of trisomy 21 in fetal cells from maternal blood. Lancet 340:1033
Freije D, Helms C, Watson MS, et al. (1992) Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 258:1784–1787
Genest P (1973) Transmission héréditaire, depuis 300 ans, d’un chromosome Y à satellites dans une lignée familiale. Ann Génét 16:35–38
Graves JAM (1998) Interactions between SRY and SOX genes in mammalian sex determination. BioEssays 20:264–269
Guioli S, Schmitt K, Critcher R, et al. (1998) Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet 63: 905–908
Haqq CM, King C-Y, Donald PH, et al. (1993) SRY recognizes conserved DNA sites in sex-specific promoters. Proc Natl Acad Sci USA 90:1097–1101
Hassold TJ, Sherman SL, Pettay D, et al. (1991) XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoau-toaomal region. Am J Hum Genet 49:253–260
Hawkins JR, Taylor A, Berta P, et al. (1992) Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 88:471–474
Holm PB, Rasmussen SW (1983) Human meiosis V. Substages of pachytene in human spermatogenesis. Carlsberg Res Commun 48:351–383
Ibraimov AI, Mirrakhimov MM (1985) Q-band polymorphism in the autosomes and the Y chromosome in human populations. In: Sandberg AA (ed) The Y chromosome, Part A: Basic characteristics of the Y chromosome. Liss, New York, pp 213–287
Koopman P, Gubbay J, Vivian N, et al. (1991) Male development of chromoso-mally female mice transgenic for Sry. Nature 351:117–121
Kralog K, Galvagni F, Brown WRA (1994) The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum Mol Genet 3:771–778
Kwok C, Weller PA, Guioli S, et al. (1995) Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 57:1028–1036
Lahn BT, Page DC (1997) Functional coherence of the human Y chromosome. Science 278:675–680
Lahn BT, Page DC (1999) Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nat Genet 21:429–433
Mulhall JP, Reijo R, Alagappan R, et al. (1997) Azoospermie men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 12:503–508
Nanda I, Shan Z, Schartl M, et al. (1999) 300 million years of conserved synteny between chicken Z and human chromosome 9. Nat Genet 21:258–259
Petit C, Chappelle A de la, Levilliers J, et al. (1987) An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell 49:595–602
Raymond CS, Shamu CE, Shen MM, et al. (1998) Evidence for evolutionary conservation of sex-determining genes. Nature 391:691–695
Rouyer F, Simmler M-C, Johnsson C, et al. (1986) A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319:291–295
Schempp W (1985) High-resolution replication of the human Y chromosome. In: Sandberg AA (ed) The Y chromosome, Part A: Basic characteristics of the Y chromosome. Liss, New York, pp 357–371
Schiebel K, Winkelmann M, Mertz A, et al. (1997) Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y−) XY females. Hum Mol Genet 6:1985–1989
Sinclair AH, Berta P, Palmer MS, et al. (1990) A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature 346:240–244
Swain A, Narvaez V, Burgoyne P, et al. (1998) Dax1 antagonizes Sry action in mammalian sex determination. Nature 391:761–767
Therman E, Sarto GE, Patan K (1974) Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma 44: 361–366
Thomas MR, Tutschek B, Frost A, et al. (1995) The time of appearance and disappearance of fetal DNA from the maternal circulation. Prenatal Diagn 15:641–646
Wang I, Weil D, Levilliers J, et al. (1995) Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. Genomics 28:52–58
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Miller, O.J., Therman, E. (2001). Sex Determination and the Y Chromosome. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-0139-4_17
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DOI: https://doi.org/10.1007/978-1-4613-0139-4_17
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