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Human Chromosomes pp 228–236Cite as

Functional Structure of the Human X Chromosome

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Abstract

Superimposed on the gene map and the banding pattern, the human X chromosome can be divided into functional regions, which mostly reflect inactivation-activation phenomena. These are presented in Fig. 23.1. Some of the evidence on which these interpretations are based will be discussed in this chapter.

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References

  • Alvesalo L, Tammisalo E (1981) Enamel thickness in 45,X females’ permanent teeth. Am J Hum Genet 33:464–469

    PubMed  CAS  Google Scholar 

  • Alvesalo L, Tammisalo E, Therman E (1987) 47,XXX females, sex chromosomes and tooth crown structure. Hum Genet 77:345–348

    Article  PubMed  CAS  Google Scholar 

  • Alvesalo L, Tammisalo E, Townsend G (1991) Upper central incisor and canine tooth crown size in 47,XXY males. J Dent Res 70:1057–1060

    Article  PubMed  CAS  Google Scholar 

  • Brown CJ, Willard HF (1990) Localization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation. Am J Hum Genet 46:273–279

    PubMed  CAS  Google Scholar 

  • Brown CJ, Ballabio A, Rupert JL, et al. (1991a) A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38–44

    Article  PubMed  CAS  Google Scholar 

  • Brown CJ, Lafreniere RG, Powers VE, et al. (1991b) Localization of the X inactivation centre on the human X chromosome in Xql3. Nature 349:82–84

    Article  PubMed  CAS  Google Scholar 

  • Burgoyne PS (1982) Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum Genet 61:85–90

    Article  PubMed  CAS  Google Scholar 

  • Carpenter NJ (1983) Balanced X;autosome translocations and gonadal dysfunction in females and males. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, Part B: X chromosome anomalies and their clinical manifestations. Liss, New York, pp 211–224

    Google Scholar 

  • Daly RF, Patau K, Therman E, et al. (1977) Structure and Barr body formation of an Xp+ chromosome with two inactivation centers. Am J Hum Genet 29:83–93

    PubMed  CAS  Google Scholar 

  • Davies K (1991) The essence of inactivity. Nature 349:15–16

    Article  PubMed  CAS  Google Scholar 

  • Hellkuhl B, Chapelle A de la, Grzeschik K-H (1982) Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet 60:126–129

    Article  PubMed  CAS  Google Scholar 

  • Madan K, Hompes PGA, Schoemaker J, et al. (1981) X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter. Hum Genet 59:290–296

    Article  PubMed  CAS  Google Scholar 

  • Mattei MG, Mattei JF, Vidal I, et al. (1981) Structural anomalies of the X chromosome and inactivation center. Hum Genet 56:401–408

    Article  PubMed  CAS  Google Scholar 

  • Reddy KS, Savage JRK, Papworth DG (1988) Replication kinetics of X chromosomes in fibroblasts and lymphocytes. Hum Genet 79:44–48

    Article  PubMed  CAS  Google Scholar 

  • Ross JB, Allderdice PW, Shapiro LJ, et al. (1985) Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223 — pter. Arch Dermatol 121:1524–1528

    Article  PubMed  CAS  Google Scholar 

  • Sarto GE, Therman E, Patau K (1973) X inactivation in man: A woman with t(Xq 12q+). Am J Hum Genet 25:262–270

    Google Scholar 

  • Sarto GE, Otto PG, Kuhn EM, et al. (1987) What causes the abnormal phenotype in a 49,XXXXY male? Hum Genet 76:1–4

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • Schempp W, Meer B (1983) Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum Genet 63:171–174

    Article  PubMed  CAS  Google Scholar 

  • Schmidt M, Migeon BR (1990) Asynchronous replication of homologous loci on human active and inactive X chromosomes. Proc Natl Acad Sci USA 87:3685–3689

    Article  PubMed  CAS  Google Scholar 

  • Therman E (1983) Mechanisms through which abnormal X-chromosome constitutions affect the phenotype. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, Part B: X chromosome anomalies and their clinical manifestations. Liss, New York, pp 159–173

    Google Scholar 

  • Therman E, Patau K (1974) Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik 25:1–16

    PubMed  CAS  Google Scholar 

  • Therman E, Sarto GE (1983) Inactivation center on the human X chromosome. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, Part A: Basic mechanisms of X chromosome behavior. Liss, New York, pp 315–325

    Google Scholar 

  • Therman E, Susman B (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85: 175–183

    PubMed  CAS  Google Scholar 

  • Therman E, Sarto GE, Patau K (1974a) Apparently isodicentric but functionally monocentric X chromosome in man. Am J Hum Genet 26:83–92

    PubMed  CAS  Google Scholar 

  • Therman E, Sarto GE, Patau K (1974b) Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma 44:361–366

    Article  PubMed  CAS  Google Scholar 

  • Therman E, Sarto GE, Distèche C, et al. (1976) A possible active segment on the inactive human X chromosome. Chromosoma 59:137–145

    Article  PubMed  CAS  Google Scholar 

  • Therman E, Sarto GE, Palmer CG, et al. (1979) Position of the human X inactivation center on Xq. Hum Genet 50:59–64

    Article  PubMed  CAS  Google Scholar 

  • Therman E, Denniston C, Sarto GE, et al. (1980) X chromosome constitution and the human female phenotype. Hum Genet 54:133–143

    Article  PubMed  CAS  Google Scholar 

  • Therman E, Laxova R, Susman B (1990) The critical region on the human Xq. Hum Genet 85:455–461

    PubMed  CAS  Google Scholar 

  • Trunca C, Therman E, Rosenwaks Z (1984) The phenotypic effects of small, distal Xq deletions. Hum Genet 68:87–89

    Article  PubMed  CAS  Google Scholar 

  • Wyss D, DeLozier CD, Daniell J, et al. (1982) Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases. Clin Genet 21:145–159

    Article  PubMed  CAS  Google Scholar 

  • Zakharov AF, Baranovskaya LJ (1983) X-X chromosome translocations and their karyotype-phenotype correlations. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, Part B: X chromosome anomalies and their clinical manifestations. Liss, New York, pp 261–279

    Google Scholar 

  • Zuffardi O (1983) Cytogenetics of human X/autosome translocations. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, Part B: X chromosome anomalies and their clinical manifestations. Liss, New York, pp 193–209

    Google Scholar 

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Authors and Affiliations

  1. Department of Medical Genetics, University of Wisconsin, Madison, WI, 53706, USA

    Eeva Therman

  2. Medical School, University of Wisconsin, Madison, WI, 53706, USA

    Millard Susman

Authors
  1. Eeva Therman
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  2. Millard Susman
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© 1993 Springer-Verlag New York, Inc.

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Therman, E., Susman, M. (1993). Functional Structure of the Human X Chromosome. In: Human Chromosomes. Springer Study Edition. Springer, New York, NY. https://doi.org/10.1007/978-1-4684-0529-3_23

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  • DOI: https://doi.org/10.1007/978-1-4684-0529-3_23

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-97871-0

  • Online ISBN: 978-1-4684-0529-3

  • eBook Packages: Springer Book Archive

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