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在源自睾丸女性化综合征杂合携带者的克隆成纤维细胞中突变雄激素受体的表达。

Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.

作者信息

Elawady M K, Allman D R, Griffin J E, Wilson J D

出版信息

Am J Hum Genet. 1983 May;35(3):376-84.

PMID:6602545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685633/
Abstract

Thermolability of androgen binding was compared in fibroblasts cloned from normal female skin, skin from a subject with testicular feminization whose mutation is known to be associated with a thermolabile androgen receptor, and from the mother of the subject with testicular feminization. Seven of 28 clones studied from the mother exhibited thermolability of binding, indicating that the mutant gene that causes thermolability of binding, like the gene responsible for the normal androgen receptor, is X-linked.

摘要

对从正常女性皮肤克隆的成纤维细胞、来自一名雄激素不敏感综合征患者（已知其突变与热不稳定雄激素受体相关）的皮肤以及该雄激素不敏感综合征患者母亲的皮肤中的雄激素结合热稳定性进行了比较。从母亲的皮肤中研究的28个克隆中有7个表现出结合热稳定性，这表明导致结合热稳定性的突变基因与负责正常雄激素受体的基因一样，是X连锁的。

相似文献

1
Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.在源自睾丸女性化综合征杂合携带者的克隆成纤维细胞中突变雄激素受体的表达。
Am J Hum Genet. 1983 May;35(3):376-84.
2
Cytosolic androgen receptor in skeletal muscle from normal and testicular feminization mutant (Tfm) rats.正常大鼠和睾丸雌性化突变（Tfm）大鼠骨骼肌中的胞质雄激素受体
Biochem Biophys Res Commun. 1981 Aug 14;101(3):792-9. doi: 10.1016/0006-291x(81)91820-9.
3
Androgen insensitivity syndrome: gonadal androgen receptor activity.雄激素不敏感综合征：性腺雄激素受体活性。
Am J Obstet Gynecol. 1984 Nov 1;150(5 Pt 1):531-3. doi: 10.1016/s0002-9378(84)90434-4.
4
Testicular feminization associated with a thermolabile androgen receptor in culutred human fibroblasts.培养的人成纤维细胞中与热不稳定雄激素受体相关的睾丸女性化
J Clin Invest. 1979 Dec;64(6):1624-31. doi: 10.1172/JCI109624.
5
Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor.培养的生殖器皮肤成纤维细胞中具有正常二氢睾酮结合能力的人类最小雄激素不敏感：雄激素受体选择性定性异常的证据。
Am J Hum Genet. 1984 Sep;36(5):965-78.
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Androgen receptor in human skin cytosol.人皮肤胞质溶胶中的雄激素受体。
J Clin Endocrinol Metab. 1981 Feb;52(2):338-44. doi: 10.1210/jcem-52-2-338.
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Studies of the androgen receptor in dispersed fibroblasts: investigation of patients with androgen insensitivity.分散成纤维细胞中雄激素受体的研究：雄激素不敏感患者的调查
Clin Endocrinol (Oxf). 1984 Jan;20(1):93-105. doi: 10.1111/j.1365-2265.1984.tb00063.x.
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Residual androgen binding in testicular feminization (TFM).睾丸女性化（TFM）中的残余雄激素结合
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9
Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.雄激素受体激素结合域中的单氨基酸替换（840位精氨酸→组氨酸）导致与热不稳定雄激素受体相关的不完全雄激素不敏感综合征。
Eur J Endocrinol. 1994 Jun;130(6):569-74. doi: 10.1530/eje.0.1300569.
10
DHT-receptor in cultured human fibroblasts: binding study in a family with androgen insensitivity (complete testicular feminisation).培养的人成纤维细胞中的双氢睾酮受体：对一个雄激素不敏感（完全性睾丸女性化）家族的结合研究
J Med Genet. 1982 Oct;19(5):349-53. doi: 10.1136/jmg.19.5.349.

引用本文的文献

1
Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.杜氏肌营养不良症携带者皮肤成纤维细胞克隆中的细胞表面异常。
J Med Genet. 1985 Apr;22(2):100-3. doi: 10.1136/jmg.22.2.100.
2
Reduced affinity of the androgen receptor for 5 alpha-dihydrotestosterone but not methyltrienolone in a form of partial androgen resistance. Studies on cultured genital skin fibroblasts.在一种部分雄激素抵抗形式中，雄激素受体对5α - 双氢睾酮的亲和力降低，但对甲基三烯olone的亲和力未降低。对培养的生殖器皮肤成纤维细胞的研究。
J Clin Invest. 1985 Apr;75(4):1291-6. doi: 10.1172/JCI111829.
3
Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment.雄激素抵抗综合征家族中基于限制性片段长度多态性的连锁分析：雄激素受体基因座与DXS1片段紧密连锁的证据
Hum Genet. 1987 Jul;76(3):248-52. doi: 10.1007/BF00283617.
4
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.一个患有完全性雄激素不敏感综合征的家族中雄激素受体基因的外显子点突变。
Am J Hum Genet. 1990 Jun;46(6):1095-100.

本文引用的文献

1
Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor.由于雄激素受体质量异常导致的先天性雄激素不敏感。
Am J Med Genet. 1981;10(1):91-9. doi: 10.1002/ajmg.1320100111.
2
Qualitative receptor defects in families with androgen resistance: failure of stabilization of the fibroblast cytosol androgen receptor.雄激素抵抗家族中的定性受体缺陷：成纤维细胞胞质雄激素受体的稳定失败。
J Clin Endocrinol Metab. 1982 Sep;55(3):465-74. doi: 10.1210/jcem-55-3-465.
3
Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence for a qualitative abnormality of the receptor.培养的生殖器皮肤成纤维细胞中具有正常二氢睾酮受体结合能力的人类完全雄激素不敏感：受体定性异常的证据。
J Clin Endocrinol Metab. 1982 Jul;55(1):61-9. doi: 10.1210/jcem-55-1-61.
4
Comparison of methyltrienolone and dihydrotestosterone binding and metabolism in human genital skin fibroblasts.甲基三烯醇酮与双氢睾酮在人生殖器皮肤成纤维细胞中的结合及代谢比较
J Steroid Biochem. 1981 Oct;14(10):1013-22. doi: 10.1016/0022-4731(81)90209-0.
5
Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse.雄激素受体基因座的研究：定位于人类X染色体以及与小鼠Tfm基因座同源性的证据。
Proc Natl Acad Sci U S A. 1981 Oct;78(10):6339-43. doi: 10.1073/pnas.78.10.6339.
6
Variation in steroid 5 alpha-reductase activity in cloned human skin fibroblasts. Shift in phenotypic expression from high to low activity upon subcloning.克隆的人皮肤成纤维细胞中甾体5α-还原酶活性的变化。亚克隆后表型表达从高活性向低活性转变。
J Biol Chem. 1981 Apr 25;256(8):3662-6.
7
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.肾上腺脑白质营养不良：X连锁、失活以及杂合细胞中有利于突变等位基因的选择的证据。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066-70. doi: 10.1073/pnas.78.8.5066.
8
X-linked gene for testicular feminization in the mouse.小鼠睾丸女性化的X连锁基因。
Nature. 1970 Sep 19;227(5264):1217-9. doi: 10.1038/2271217a0.
9
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.莱施-奈恩综合征杂合子红细胞中葡萄糖-6-磷酸脱氢酶的半合子表达。
Proc Natl Acad Sci U S A. 1970 Jan;65(1):214-8. doi: 10.1073/pnas.65.1.214.
10
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.对10个患有次黄嘌呤鸟嘌呤磷酸核糖转移酶（HGPRT）缺乏症的家族的皮肤成纤维细胞进行研究，并参考X染色体失活情况。
Am J Hum Genet. 1971 Mar;23(2):199-210.