Non-inactivation of an x-chromosome locus in man - PubMed (original) (raw)
Non-inactivation of an x-chromosome locus in man
L J Shapiro et al. Science. 1979.
Abstract
Cloned fibroblasts from women heterozygous for X-linked ichthyosis (steroid sulfatase deficiency) were examined to see whether or not this locus is subject to X-inactivation. Of 103 clones examined, all had normal levels of steroid sulfatase activity. Two of the women studied were also heterozygous for glucose-6-phosphate dehydrogenase deficiency. This allowed the demonstration that both X chromosomes were represented as the active X in various clones and that selection did not account for these findings. Thus, the steroid sulfatase locus, like the Xga locus to which it is linked, appears to escape X-inactivation in man.
Similar articles
- Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller CR, Ropers HH. Tiepolo L, et al. Hum Genet. 1980;54(2):205-6. doi: 10.1007/BF00278973. Hum Genet. 1980. PMID: 6930361 - Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.
Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC. Mohandas T, et al. Proc Natl Acad Sci U S A. 1979 Nov;76(11):5779-83. doi: 10.1073/pnas.76.11.5779. Proc Natl Acad Sci U S A. 1979. PMID: 293682 Free PMC article. - X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
Jöbsis AC, De Groot WP, Tigges AJ, De Bruijn HW, Rijken Y, Meijer AE, Marinkovic-Ilsen A. Jöbsis AC, et al. Am J Pathol. 1980 May;99(2):279-89. Am J Pathol. 1980. PMID: 6929654 Free PMC article. - Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Bradshaw KD, Carr BR. Bradshaw KD, et al. Obstet Gynecol Surv. 1986 Jul;41(7):401-13. Obstet Gynecol Surv. 1986. PMID: 3531932 Review. - Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome.
Shapiro LJ. Shapiro LJ. Adv Hum Genet. 1985;14:331-81, 388-9. doi: 10.1007/978-1-4615-9400-0_5. Adv Hum Genet. 1985. PMID: 2859745 Review. No abstract available.
Cited by
- Mapping and expression of the ubiquitin-activating enzyme E1 (Ube1) gene in the mouse.
Disteche CM, Zacksenhaus E, Adler DA, Bressler SL, Keitz BT, Chapman VM. Disteche CM, et al. Mamm Genome. 1992;3(3):156-61. doi: 10.1007/BF00352460. Mamm Genome. 1992. PMID: 1617221 - Absence of methylation of a CpG-rich region at the 5' end of the MIC2 gene on the active X, the inactive X, and the Y chromosome.
Goodfellow PJ, Mondello C, Darling SM, Pym B, Little P, Goodfellow PN. Goodfellow PJ, et al. Proc Natl Acad Sci U S A. 1988 Aug;85(15):5605-9. doi: 10.1073/pnas.85.15.5605. Proc Natl Acad Sci U S A. 1988. PMID: 2456574 Free PMC article. - Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect.
Brown CJ, Willard HF. Brown CJ, et al. Am J Hum Genet. 1989 Oct;45(4):592-8. Am J Hum Genet. 1989. PMID: 2491017 Free PMC article. - Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.
Cohen MM, Charrow J, Balkin NE, Harris CJ. Cohen MM, et al. Am J Hum Genet. 1983 Jul;35(4):635-44. Am J Hum Genet. 1983. PMID: 6881140 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources