Literature DB >> 5283930

Expression of two X-linked genes in human hair follicles of double heterozygotes.

J L Goldstein, J F Marks, S M Gartler.   

Abstract

Expression of the two X-linked loci glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) and hypoxanthine:guanine phosphoribosyltransferase (HGPRT; EC 2.4.2.8) was studied in single hair follicles of two females who were heterozygous for both of these genes (double heterozygotes). The coupling phase for these two loci was known to be g6pd A and hyprt(-) on the maternal X chromosome and g6pd B and hgprt(+) on the paternal X. Three phenotypic classes of hair follicles were observed in both double heterozygotes: G6pd A follicles with deficient HGPRT activity, G6pd B follicles with normal HGPRT activity, and G6pd AB follicles with intermediate HGPRT activity. These data directly demonstrate one of the predictions of the Lyon hypothesis that for two X-linked loci, those genes in cis position are turned on or off in a cell and its clone, while in trans only one gene or the other is expressed.

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Year:  1971        PMID: 5283930      PMCID: PMC389209          DOI: 10.1073/pnas.68.7.1425

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  8 in total

1.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

2.  Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.

Authors:  S M Gartler; E Gandini; G Angioni; N Argiolas
Journal:  Ann Hum Genet       Date:  1969-10       Impact factor: 1.670

3.  Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.

Authors:  G Romeo; B R Migeon
Journal:  Science       Date:  1970-10-09       Impact factor: 47.728

4.  X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Authors:  B R Migeon; V M Der Kaloustian; W L Nyhan; W J Yough; B Childs
Journal:  Science       Date:  1968-04-26       Impact factor: 47.728

5.  Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.

Authors:  S M Gartler; R C Scott; J L Goldstein; B Campbell
Journal:  Science       Date:  1971-05-07       Impact factor: 47.728

6.  Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

Authors:  W L Nyhan; B Bakay; J D Connor; J F Marks; D K Keele
Journal:  Proc Natl Acad Sci U S A       Date:  1970-01       Impact factor: 11.205

7.  Mitotic separation of two human X-linked genes in man--mouse somatic cell hybrids.

Authors:  O J Miller; P R Cook; P Meera Khan; S Shin; M Siniscalco
Journal:  Proc Natl Acad Sci U S A       Date:  1971-01       Impact factor: 11.205

8.  Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1967-09-01       Impact factor: 14.307

  8 in total
  5 in total

1.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

3.  Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

Authors:  R J Albertini; R DeMars
Journal:  Biochem Genet       Date:  1974-05       Impact factor: 1.890

4.  Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

Authors:  U Francke; B Bakay; J D Connor; J G Coldwell; W L Nyhan
Journal:  Am J Hum Genet       Date:  1974-07       Impact factor: 11.025

5.  Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues.

Authors:  Bas de Hoon; Kim Monkhorst; Peter Riegman; Joop S E Laven; Joost Gribnau
Journal:  J Med Genet       Date:  2015-07-28       Impact factor: 6.318

  5 in total

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