Literature DB >> 165510

Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.

W J Meyer, B R Migeon, C J Migeon.   

Abstract

We have studied androgen binding characteristics of cells for androgen insensitivity from an obligate heterozygote, who is the mother of three male pseudohermaphrodites with dihydrotestosterone (17beta-hydroxy-5alpha-androstan-3-one) receptor deficiency. Specific dihydrotestosterone binding by skin fibroblasts from her wrist and pubis is within the normal range and indicates that androgen insensitivity is X-linked in man and is therefore homologous to the tfm locus in the mouse. A significant population of clones from the heterozygote has deficient receptor activity, and this finding is compatible with inactivation of one X-linked allele at this locus. Our results indicate the presence of a gene on the human X chromosome that is essential for normal male sexual differentiation and provide further evidence for homology between X chromosomes of all mammals.

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Year:  1975        PMID： 165510      PMCID： PMC432557          DOI： 10.1073/pnas.72.4.1469

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


  13 in total

1.  FURTHER OBSERVATIONS ON THE SYNDROME, "TESTICULAR FEMINIZATION".

Authors:  J M MORRIS; V B MAHESH
Journal:  Am J Obstet Gynecol       Date:  1963-11-15       Impact factor: 8.661

2.  Testicular feminisation and colour-blindness.

Authors:  J S STEWART
Journal:  Lancet       Date:  1959-10-17       Impact factor: 79.321

3.  Haemophilia A in a "girl" with male sex-chromatin pattern.

Authors:  I M NILSSON; S BERGMAN; J REITALU; J WALDENSTROM
Journal:  Lancet       Date:  1959-09-05       Impact factor: 79.321

4.  A study of the conditions and mechanism of the diphenylamine reaction for the colorimetric estimation of deoxyribonucleic acid.

Authors:  K BURTON
Journal:  Biochem J       Date:  1956-02       Impact factor: 3.857

5.  The syndrome of testicular feminization in male pseudohermaphrodites.

Authors:  J M MORRIS
Journal:  Am J Obstet Gynecol       Date:  1953-06       Impact factor: 8.661

Review 6.  X-chromosome inactivation and developmental patterns in mammals.

Authors:  M F Lyon
Journal:  Biol Rev Camb Philos Soc       Date:  1972-01

7.  Cytosol androgen receptor from kidney of normal and testicular feminized (Tfm) mice.

Authors:  B Attardi; S Ono
Journal:  Cell       Date:  1974-08       Impact factor: 41.582

8.  Characterization of a hormone receptor defect in the androgen-insensitivity mutant.

Authors:  U Gehring; G M Tomkins
Journal:  Cell       Date:  1974-09       Impact factor: 41.582

9.  Androgen receptors in testicular feminization.

Authors:  L P Bullock; W C Bardin
Journal:  J Clin Endocrinol Metab       Date:  1972-12       Impact factor: 5.958

10.  Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts.

Authors:  B S Keenan; W J Meyer; A J Hadjian; H W Jones; C J Migeon
Journal:  J Clin Endocrinol Metab       Date:  1974-06       Impact factor: 5.958
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  40 in total

1.  Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization.

Authors:  U Müller; N R Schneider; J F Marks; K G Kupke; G N Wilson
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

2.  Comparative studies in two cases of testicular feminization syndrome, one with and the other without the fluorescent distal band q12 of the Y.

Authors:  A Barbarino; A Serra; E Menini; G Pizzolato; E Moneta; E Pasargiklian; L de Marinis; R Bova
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

3.  The Jeremiah Metzger lecture of The American Clinical and Climatological Association 1975. New genetic insight into old diseases.

Authors:  V A McKusick
Journal:  Trans Am Clin Climatol Assoc       Date:  1976

4.  Central aromatization of testosterone in testicular feminized mice.

Authors:  J M Rosenfeld; J D Daley; S Ohno; E V YoungLai
Journal:  Experientia       Date:  1977-10-15

5.  An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.

Authors:  T J Sai; S Seino; C S Chang; M Trifiro; L Pinsky; A Mhatre; M Kaufman; B Lambert; J Trapman; A O Brinkmann
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

6.  Expression of genes from the human active and inactive X chromosomes.

Authors:  C J Brown; L Carrel; H F Willard
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

7.  [Hormonal principles in normal and pathologic somatic sexual development].

Authors:  H U Schweikert; F Neumann
Journal:  Klin Wochenschr       Date:  1986-01-15

8.  In vitro studies of gonadal organogenesis in the presence and absence of H-Y antigen.

Authors:  S Ohno; Y Nagai; S Ciccarese; R Smith
Journal:  In Vitro       Date:  1979-01

9.  Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human.

Authors:  K Huebner; A ar-Rushdi; C A Griffin; M Isobe; C Kozak; B S Emanuel; L Nagarajan; J L Cleveland; T I Bonner; M D Goldsborough
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

10.  Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.

Authors:  T R Brown; D B Lubahn; E M Wilson; D R Joseph; F S French; C J Migeon
Journal:  Proc Natl Acad Sci U S A       Date:  1988-11       Impact factor: 11.205
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