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

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 68 ·No. 7 ·1971-07-00 ·Pages 1425-7

Goldstein JL, Marks JF, Gartler SM

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.

MeSH Terms

Adenine/metabolism Adenine Nucleotides Adolescent Adult Carbon Isotopes Child Electrophoresis Female Genes Genetics, Medical Glucosephosphate Dehydrogenase/analysis Guanine Nucleotides Hair/enzymology Heterozygote Humans Hypoxanthines Isoenzymes/analysis Lesch-Nyhan Syndrome/enzymology Male Middle Aged Mutation Pentosephosphates Radioisotopes Sex Chromosomes Transferases/analysis Tritium

Chemicals

Adenine Nucleotides Carbon Isotopes Guanine Nucleotides Hypoxanthines Isoenzymes Pentosephosphates Radioisotopes Tritium Glucosephosphate Dehydrogenase Transferases Adenine

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Goldstein J L

Marks J F

Gartler S M

References (8)

8 references, click to expand

Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.
J Exp Med. 1967 Sep 1;126(3):509-22 PMID: 4962269
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Science. 1968 Apr 26;160(3826):425-7 PMID: 4868511
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
Proc Natl Acad Sci U S A. 1970 Jan;65(1):214-8 PMID: 5263751
Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.
Ann Hum Genet. 1969 Oct;33(2):171-6 PMID: 5383983
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
Science. 1970 Oct 9;170(3954):180-1 PMID: 5466114
Mitotic separation of two human X-linked genes in man--mouse somatic cell hybrids.
Proc Natl Acad Sci U S A. 1971 Jan;68(1):116-20 PMID: 5276281
Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.
Science. 1971 May 7;172(3983):572-4 PMID: 5555078
DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.
Proc Natl Acad Sci U S A. 1963 Sep;50:481-5 PMID: 14067093

Article Info

Journal

Proceedings of the National Academy of Sciences of the United States of America

Abbr.

Proc Natl Acad Sci U S A

ISSN

0027-8424

DOI

10.1073/pnas.68.7.1425

Published

1971-07-00

Pages

1425-7

Language

English

Region

United States

NLM ID

7505876

PMCID

PMC389209

Subset

External Links

PubMed source DOI: 10.1073/pnas.68.7.1425 PMC Full Text View journal details

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

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