1,25-Dihydroxyvitamin D3 receptors in rat kidney cytosol

Chandler, John S.; Pike, J. Wesley; Haussler, Mark R.

doi:10.1016/0006-291x(79)91933-8

Cited by 85 publications

(16 citation statements)

References 15 publications

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“…The elution characteristics confirm those previously reported with extracts from other potential 1,25- (0H) 2 D target tissues (12)(13)(14). The elution characteristics confirm those previously reported with extracts from other potential 1,25- (0H) 2 D target tissues (12)(13)(14).…”

Section: Discussionsupporting

confidence: 88%

Receptor-Positive Hereditary Resistance to 1,25-Dihydroxyvitamin D: Chromatography of Hormone-Receptor Complexes on Deoxyribonucleic Acid-Cellulose Shows Two Classes of Mutation*

Liberman¹,

Eil

Marx

1986

The Journal of Clinical Endocrinology & Metabolism

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We used cultured skin fibroblasts from patients with hereditary resistance to 1,25-dihydroxyvitamin D [1,25-(OH)2D] and normal hormone binding to soluble extract from cells [i.e. receptor-positive resistance to 1,25-(OH)2D] to characterize DNA binding of the receptor for 1,25-(OH)2D. Occupied receptor was generated by incubating soluble extracts from cells with [3H]1,25-(OH)2D3; occupied receptor was applied to columns of DNA-cellulose and then eluted with linear gradients of KCl. Occupied receptors of cells from other sources eluted as a single peak at 0.20-0.26 M KCl; this elution pattern was independent of tissue (skin, breast cancer, or osteosarcoma) or species (human or rat) of origin of the receptors. With cells from two kindreds in whom there was mildly decreased localization of the hormone-receptor complex to the nucleus in vitro, occupied receptor interacted abnormally with DNA-cellulose (elution at 0.09-0.13 M KCl vs. normal at 0.20-0.26 M KCl); this suggested mutation(s) that affected a DNA-binding domain of the receptor in these two kindreds. With receptor-positive cells from two other kindreds in whom there was unmeasurable hormone localization to the nucleus, the elution pattern of occupied receptors from DNA-cellulose was normal; this suggested mutation(s) which did not affect the same DNA-binding site. We conclude that our demonstration of two distinct elution profiles from DNA-cellulose reflects two independent classes of mutation, either of which can cause receptor-positive resistance to 1,25-(OH)2D.

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Section: Discussionsupporting

confidence: 88%

Receptor-Positive Hereditary Resistance to 1,25-Dihydroxyvitamin D: Chromatography of Hormone-Receptor Complexes on Deoxyribonucleic Acid-Cellulose Shows Two Classes of Mutation*

Liberman¹,

Eil

Marx

1986

The Journal of Clinical Endocrinology & Metabolism

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“…Such a nuclear localization suggests that 1, 25(OH),D, acts as a classic steroid hormone, via a nuclear mechanism. Indeed, a cytosolic receptor for 1,25(OH)2D3 has been identified in intestinal mucosa from rat (189), human (190) and chick (191), and in kidney (192)(193)(194), parathyroid (195), pituitary gland (196), bone (197)(198)(199)(200), thymus (201), pancreas (194) and mammary tissue from rat (202) and human (203).…”

Section: The Vitamin D Hortnoncmentioning

confidence: 99%

Vitamin D and skeletal tissues

Finkelman

Butler

1985

J Oral Pathology Medicine

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It is now accepted that vitamin D is an integral part of a complex endocrine system, one with far-reaching implications in mineral metafwlism. Reviews of the sources, functions and metabolism of vitamin D, as currently understood, are presented as a prelude to discussions of the role of vitamin D in calcium and phosphorous homeostatis and po.ssible specific roles for vitamin D in tiiineralized tissues. Data describing a possible regulatory function for vitamin D in bone and bone protein metabolism are presented. Some of the controversy which presently exists regarding the biochemical mechanism of the action of this vitamin is discussed. Finally, the possible relationship of vitamin D and disorders of skeletal tissues is described.

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“…In the kidney, various effects have been attributed to vitamin D including modifications of renal handling of calcium and phosphorus (Bonjour & Fleisch, 1977;Sutton et af., 1977), and modulation of renal vitamin D-hydroxylase activity (Tanaka & DeLuca, 1974;Henry, 1977). In addition a vitamin D dependent CaBP (Morrissey et al, 1975;Hermsdorf & Bronner, 1975) and specific 1,25(OH)zD3 receptors have been recently demonstrated in mammalian kidney (Chandler et al, 1979). However, due to the multiplicity of factors involved we felt it was impossible to demonstrate kidney's responsiveness (or lack thereof), to 1,25(OH)zD3 in our patient.…”

Section: Discussionmentioning

confidence: 77%

Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D

Beer

Tieder

Kohelet

et al. 1981

Clinical Endocrinology

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A 4-year-old girl presented with severe clinical and radiological rickets, and alopecia since the age of 1 year. Laboratory studies revealed: hypocalcaemia, hypophosphataemia, secondary hyperparathyroidism, abnormally low intestinal calcium absorption, and markedly elevated circulating 1,25(OH)2D3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D2, 1 alpha (OH)D3 and 1,25(OH)2D3 were totally ineffective. Intestinal resistance to the action of 1,25(OH)2D3 appeared well established in this case. Refractoriness of bone to this hormone seems less certain. From this new entity of 'Vitamin D resistant rickets due to end organ unresponsiveness', six cases have been hitherto reported in the literature. However, only two have enough resemblance to our case, to constitute a distinct and well defined nosologic subunit. The molecular basis of this disorder(s) remains to be elucidated.

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1,25-Dihydroxyvitamin D3 receptors in rat kidney cytosol

Cited by 85 publications

References 15 publications

Receptor-Positive Hereditary Resistance to 1,25-Dihydroxyvitamin D: Chromatography of Hormone-Receptor Complexes on Deoxyribonucleic Acid-Cellulose Shows Two Classes of Mutation*

Receptor-Positive Hereditary Resistance to 1,25-Dihydroxyvitamin D: Chromatography of Hormone-Receptor Complexes on Deoxyribonucleic Acid-Cellulose Shows Two Classes of Mutation*

Vitamin D and skeletal tissues

Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D

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