Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene.

Abstract:

:The functional significance of two unlinked human vitamin D receptor (hVDR) gene polymorphisms was evaluated in twenty human fibroblast cell lines. Genotypes at both a Fok I restriction site (F/f) in exon II and a singlet (A) repeat in exon IX (L/S) were determined, and relative transcription activities of endogenous hVDR proteins were measured using a transfected, 1,25-dihydroxyvitamin D(3)-responsive reporter gene. Observed activities ranged from 2--100-fold induction by hormone, with higher activity being displayed by the F and the L biallelic forms. Only when genotypes at both sites were considered simultaneously did statistically significant differences emerge. Moreover, the correlation between hVDR activity and genotype segregated further into clearly defined high and low activity groups with similar genotypic distributions. These results not only demonstrate functional relevance for both the F/f and L/S common polymorphisms in hVDR, but also provide novel evidence for a third genetic variable impacting receptor potency.

journal_name

Mol Cell Endocrinol

authors

Whitfield GK,Remus LS,Jurutka PW,Zitzer H,Oza AK,Dang HT,Haussler CA,Galligan MA,Thatcher ML,Encinas Dominguez C,Haussler MR

doi

10.1016/s0303-7207(01)00406-3

keywords:

subject

Has Abstract

pub_date

2001-05-25 00:00:00

pages

145-59

issue

1-2

eissn

0303-7207

issn

1872-8057

pii

S0303720701004063

journal_volume

177

pub_type

杂志文章
  • Estrogen modulates cardiac growth through an estrogen receptor α-dependent mechanism in healthy ovariectomized mice.

    abstract::The modulation of cardiac growth by estrogen in healthy mice is not completely understood. The aim was to investigate the effects of estrogen on cardiac growth in healthy mice lacking either estrogen receptor (ER) α or β. Wild-type (WT), ERα knockout (ERKO) and ERβ knockout (BERKO) 2-month-old mice were ovariectomized...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2013.11.011

    authors: Kararigas G,Nguyen BT,Jarry H

    更新日期:2014-02-15 00:00:00

  • High-affinity binding of the antiestrogen [3H]tamoxifen to the 8S estradiol receptor.

    abstract::The interaction of tamoxifen (ICI 46,474), a synthetic antiestrogen, with uterine cytosol proteins of immature calf and rat has been studied directly using the tritiated compound labeled with a high specific activity. The binding complexes were measured by the dextrancoated charcoal, protamine sulfate and hydroxyapati...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(78)90006-0

    authors: Capony F,Rochefort H

    更新日期:1978-07-01 00:00:00

  • Aldosterone induces C-reactive protein expression via MR-ROS-MAPK-NF-κB signal pathway in rat vascular smooth muscle cells.

    abstract::Atherosclerosis is a chronic inflammatory disease in the vessel. As a representative inflammatory cytokine, C-reactive protein (CRP) participates in atherogenesis. Although hyperaldosteronism is known to evoke inflammatory response in several tissues and cell types, there is no direct evidence to demonstrate the proin...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2014.08.003

    authors: Zhang X,Liu J,Pang X,Zhao J,Wang S,Wu D

    更新日期:2014-09-01 00:00:00

  • TTF-2 stimulates expression of 17 genes, including one novel thyroid-specific gene which might be involved in thyroid development.

    abstract::Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism, but its molecular pathophysiology is largely unknown. Our hypothesis that some genes downstream to thyroid transcription factor-2 (TTF-2) might be responsible for development of the thyroid prompted us to identify genes whose expression is sti...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2004.04.003

    authors: Hishinuma A,Ohmika N,Namatame T,Ieiri T

    更新日期:2004-06-30 00:00:00

  • Epitope-tagged gonadotropin-releasing hormone receptors heterologously-expressed in mammalian (COS-1) and insect (Sf9) cells.

    abstract::The molecular cloning and nucleotide sequencing of the gonadotropin-releasing hormone (GnRH) receptor represented an enhanced step in the experimental effort to understand this key molecule in the reproductive process at a cell and molecular level. A subsequent step in this broad effort is heterologous expression of t...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/s0303-7207(96)04003-8

    authors: Neill JD,Sellers JC,Musgrove LC,Duck LW

    更新日期:1997-03-28 00:00:00

  • Changes in endonuclease activity during growth and regression of the Shionogi mammary carcinoma.

    abstract::Autodigestion of nuclei isolated from the androgen-dependent Shionogi mouse mammary carcinoma revealed the presence of endogenous endonuclease activity which was stimulated by Ca2+ and Mg2+ and generated a repeating pattern of DNA fragments with an average monomeric size of 179 base pairs. The nuclear concentration of...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(86)90144-9

    authors: Giles MG,Rennie PS,Bruchovsky N

    更新日期:1986-05-01 00:00:00

  • Ets-1 activates parathyroid hormone-related protein gene expression in tumorigenic breast epithelial cells.

    abstract::Parathyroid hormone-related protein (PTHrP) is produced by many tumors not associated with humoral hypercalcemia, including breast cancers. In this study, we used three human immortalized mammary epithelial cell lines that differ in tumorigenicity and PTHrP expression. Using RT-PCR we investigated 5' and 3' alternativ...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/s0303-7207(02)00298-8

    authors: Cataisson C,Gordon J,Roussière M,Abdalkhani A,Lindemann R,Dittmer J,Foley J,Bouizar Z

    更新日期:2003-06-30 00:00:00

  • The role of the renin-angiotensin system in the development of insulin resistance in skeletal muscle.

    abstract::The canonical renin-angiotensin system (RAS) involves the initial action of renin to cleave angiotensinogen to angiotensin I (ANG I), which is then converted to ANG II by the angiotensin converting enzyme (ACE). ANG II plays a critical role in numerous physiological functions, and RAS overactivity underlies many condi...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章,评审

    doi:10.1016/j.mce.2012.04.011

    authors: Henriksen EJ,Prasannarong M

    更新日期:2013-09-25 00:00:00

  • Relaxin-like factor (RLF) mRNA expression in the fallow deer.

    abstract::Employing RT- and RACE-PCR on RNA isolated from testicular tissue, we have cloned the coding cDNA sequence for the RLF, also known as Insl3, of the fallow deer. The RLF coding sequence consisted of 396 bp encoding a peptide of 131 amino acids and shared highest homology with bovine, sheep and goat RLF. Northern analys...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/s0303-7207(99)00190-2

    authors: Hombach-Klonisch S,Kauffold J,Rautenberg T,Steger K,Tetens F,Fischer B,Klonisch T

    更新日期:2000-01-25 00:00:00

  • Estrogen receptor development in the absence of growth hormone and prolactin: studies in dwarf mice.

    abstract::The concentration of high-affinity estradiol binding sites in the uteri and pituitaries of normal and two dwarf strains of mice was studied. The two dwarf strains are characterized by their total absence of growth hormone or prolactin synthesis and low or absent TSH production. The uteri of the dwarf mice are small bu...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(83)90007-2

    authors: Sartor P,Slabaugh M,Sakai D,Gorski J

    更新日期:1983-01-01 00:00:00

  • Progesterone and VIP cross-talk enhances phagocytosis and anti-inflammatory profile in trophoblast-derived cells.

    abstract::Trophoblast cells produce several inmmuneregulators like the Vasoactive Intestinal Peptide (VIP) and P4 targeting multiple circuits, and also display an intese phagocytic ability allowing embryo implantation in a tolerogenic context. Here, we explored whether P4 and VIP- crosstalk modulates trophoblast cell function, ...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2017.01.022

    authors: Vota D,Aguero M,Grasso E,Hauk V,Gallino L,Soczewski E,Pérez Leirós C,Ramhorst R

    更新日期:2017-03-05 00:00:00

  • Is human chorionic gonadotropin directly involved in the regulation of human implantation?

    abstract::The regulation of human implantation is not fully understood. hCG as one of the earliest embryonal signals may be a major regulator in the parakrine embryo-endometrial communication. The expression of full-length hCG/LH-receptor mRNA could be demonstrated in human endometrium throughout the follicular and secretory ph...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章,评审

    doi:10.1016/j.mce.2006.09.016

    authors: Licht P,Fluhr H,Neuwinger J,Wallwiener D,Wildt L

    更新日期:2007-04-15 00:00:00

  • Regulation of metabolic health and aging by nutrient-sensitive signaling pathways.

    abstract::All organisms need to be capable of adapting to changes in the availability and composition of nutrients. Over 75 years ago, researchers discovered that a calorie restricted (CR) diet could significantly extend the lifespan of rats, and since then a CR diet has been shown to increase lifespan and healthspan in model o...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章,评审

    doi:10.1016/j.mce.2016.11.014

    authors: Cummings NE,Lamming DW

    更新日期:2017-11-05 00:00:00

  • Parallel stimulation of ACTH, beta-LPH + beta-endorphin and alpha-MSH release by alpha-adrenergic agents in rat anterior pituitary cells in culture.

    abstract::Characteristics of the alpha-adrenergic stimulation of ACTH, beta-endorphin + beta-LPH and alpha-MSH release were studied in rat anterior pituitary cells in primary culture. Parallel changes of ACTH, beta-endorphin + beta-LPH and alpha-MSh release were found under all stimulatory and inhibitory conditions by natural a...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(81)90038-1

    authors: Raymond V,Lépine J,Giguère V,Lissitzky JC,Côté J,Labrie F

    更新日期:1981-06-01 00:00:00

  • Specific transgene expression in mouse pancreatic beta-cells under the control of the porcine insulin promoter.

    abstract::The availability of regulatory sequences directing tissue-specific expression of transgenes in genetically modified mice and large animals is a prerequisite for the development of adequate models for human diseases. The rat insulin 2 gene (Ins2) promoter, widely used to achieve transgene expression in pancreatic beta-...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2009.08.001

    authors: Grzech M,Dahlhoff M,Herbach N,Habermann FA,Renner-Müller I,Wanke R,Flaswinkel H,Wolf E,Schneider MR

    更新日期:2010-02-05 00:00:00

  • Molecular characterization of a corticotropin (ACTH) receptor.

    abstract::We have used a new methodology to generate a monospecific antiserum to the corticotropin (ACTH) receptor on mouse Y-1 adrenal cells. Using immunoaffinity chromatography the ACTH receptor was purified, and the molecular structure and 125I-ACTH binding characteristics were determined. A molecular weight (Mr) of 225 000 ...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(86)90099-7

    authors: Bost KL,Blalock JE

    更新日期:1986-01-01 00:00:00

  • Inhibition of FSH action on granulosa cells by low molecular weight components of follicular fluid.

    abstract::Immature female rats were injected with a single dose (10 IU) of pregnant mare serum gonadotropin to induce growth and maturation of ovarian follicles. Using such ovaries as a model, we tested the effects of low molecular weight subfractions of charcoal-absorbed bovine follicular fluid (FF-c) on (a) radioiodinated hum...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(82)90086-7

    authors: Fletcher PW,Dias JA,Sanzo MA,Reichert LE Jr

    更新日期:1982-03-01 00:00:00

  • Physiology and pathology of somatostatin in the mammalian retina: a current view.

    abstract::In the retina, peptidergic signalling participates in multiple circuits of visual information processing. The neuropeptide somatostatin (SRIF) is localised to amacrine cells and, in some instances, in a subset of ganglion cells. The variegated expression patterns of SRIF receptors (sst(1)-sst(5)) and the variety of si...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章,评审

    doi:10.1016/j.mce.2007.12.009

    authors: Cervia D,Casini G,Bagnoli P

    更新日期:2008-05-14 00:00:00

  • A selective biotinylated probe for V1a vasopressin receptors.

    abstract::We have designed and synthesized a biotinylated vasopressin antagonist which is a selective probe for studying the V1a subtype of vasopressin receptor. Initially we synthesized the novel vasopressin analogue d(CH2)5Tyr(Me)2LysNH2(9)AVP (ALVP). Biotinamidocaproate was subsequently coupled to the epsilon-amino group of ...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(91)90066-2

    authors: Howl J,Kerr ID,Chan CH,Wheatley M

    更新日期:1991-05-01 00:00:00

  • ATP-induced entry of calcium in thyroid FRTL-5 cells. Studies with phorbol myristate acetate and thapsigargin.

    abstract::Receptor-mediated Ca2+ entry was investigated in fura-2-loaded thyroid FRTL-5 cells. Activation of protein kinase C (PKC) by phorbol myristate acetate (PMA) attenuated the ATP-induced increase in intracellular free Ca2+ ([Ca2+]i). In PKC down-regulated cells, the ATP-induced increase in [Ca2+]i was increased compared ...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(93)90134-6

    authors: Törnquist K

    更新日期:1993-05-01 00:00:00

  • Transcription rate of the follicle stimulating hormone (FSH) beta subunit gene is reduced by inhibin in sheep but this does not fully explain the decrease in mRNA.

    abstract::Studies were conducted in vitro and in vivo to determine whether or not inhibin affects the transcription rate of the gene for the beta subunit of follicle stimulating hormone (FSH beta). Pituitary cells in primary culture were incubated with 0-3000 milli-units/ml inhibin; a dose-related decrement in mRNA was obtained...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(93)90274-n

    authors: Clarke IJ,Rao A,Fallest PC,Shupnik MA

    更新日期:1993-02-01 00:00:00

  • RAB7 and TSG101 are required for the constitutive recycling of unliganded EGFRs via distinct mechanisms.

    abstract::Both constitutive and ligand-mediated membrane trafficking regulate Epidermal Growth Factor Receptor (EGFR) signaling. The constitutive endocytosis and recycling of the unliganded EGFR is a critical determinant of cell surface EGFR expression and the cell's sensitivity to ligands. We report that two proteins with esta...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2013.07.029

    authors: Rush JS,Ceresa BP

    更新日期:2013-12-05 00:00:00

  • The Polycystic Ovary Syndrome and recent human evolution.

    abstract::The Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder characterised both by reproductive and metabolic disturbance, and is the most common cause globally of ovarian infertility. It is also a familial polygenic condition, linked genetically to both Type 2 diabetes and the metabolic syndrome. The striking...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章,评审

    doi:10.1016/j.mce.2013.01.001

    authors: Corbett S,Morin-Papunen L

    更新日期:2013-07-05 00:00:00

  • Twelve of fourteen surface epitopes of receptor-bound human chorionic gonadotropin (hCG) being antibody-inaccessible suggest an extensive involvement of the long extracellular domain of the hCG receptor.

    abstract::On the surface of the free (receptor-unbound) form of hCG, we have previously identified 14 topographically distinct epitopes (Schwarz et al. (1986) Endocrinology 118, 189-197; Berger et al. (1990) J. Endocrinol. 125, 301-309). Here we report that only two of them, i.e. the (adjacent) beta 3 and beta 5 epitopes, can b...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(91)90010-p

    authors: Schwarz S,Krude H,Wick G,Berger P

    更新日期:1991-11-01 00:00:00

  • Measurement of inhibin A and activin A in pregnancy--possible diagnostic applications.

    abstract::Knowledge of the roles of inhibins and activins has progressed rapidly since the development of a specific and sensitive assay that can be used for measurements on human serum and amniotic fluid samples. There is a sound theoretical basis for the role of transforming growth factor-beta family members in inflammatory p...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章,评审

    doi:10.1016/s0303-7207(01)00512-3

    authors: Ledger WL

    更新日期:2001-06-30 00:00:00

  • Iron overload induces hypogonadism in male mice via extrahypothalamic mechanisms.

    abstract:INTRODUCTION:Iron overload leads to multiple organ damage including endocrine organ dysfunctions. Hypogonadism is the most common non-diabetic endocrinopathy in primary and secondary iron overload syndromes. AIM:To explore the molecular determinants of iron overload-induced hypogonadism with specific focus on hypothal...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2017.06.019

    authors: Macchi C,Steffani L,Oleari R,Lettieri A,Valenti L,Dongiovanni P,Romero-Ruiz A,Tena-Sempere M,Cariboni A,Magni P,Ruscica M

    更新日期:2017-10-15 00:00:00

  • Lactotrope subtypes are differentially responsive to calcium channel blockers.

    abstract::Pituitary cultures from adult rats contain two subtypes of prolactin (PRL) cells, small-plaque (SP) and large-plaque (LP) lactotropes, which exhibit distinct rates of basal secretion and thereby form PRL plaques of different sizes in reverse hemolytic plaque assay experiments. In the present study, we have used plaque...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(93)90007-7

    authors: Horta J,Cota G

    更新日期:1993-04-01 00:00:00

  • Retinoic acid stimulates glucose transporter expression in L6 muscle cells.

    abstract::Factors that regulate the tissue specific and developmental expression of the GLUT4 gene, whose transcribed protein is primarily responsible for mediating insulin stimulated glucose transport, are poorly defined. In this study we examined the effects of retinoic acid, a circulating factor that can promote cellular dif...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(95)03473-k

    authors: Sleeman MW,Zhou H,Rogers S,Ng KW,Best JD

    更新日期:1995-02-27 00:00:00

  • Evidence for the involvement of essential sulphydryl group in rat hepatic lactogenic receptor but not in somatogenic receptor.

    abstract::Incorporation of p-chloromercuribenzene sulphonate (PCMBS) (1mM) in the assay medium for rat hepatic lactogenic receptor produced complete inhibition of binding of [125I]oPRL to the membrane. However, the presence of the thiol-reactive agent produced no effect on the binding of [125I]bGH to rat hepatic somatogenic rec...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/0303-7207(84)90145-x

    authors: Tsim KW,Cheng CH

    更新日期:1984-11-01 00:00:00

  • Dehydroepiandrosterone (DHEA) treatment in vitro inhibits adipogenesis in human omental but not subcutaneous adipose tissue.

    abstract::Dehydroepiandrosterone (DHEA), a precursor sex steroid, circulates in sulphated form (DHEAS). Serum DHEAS concentrations are inversely correlated with metabolic syndrome components and in vivo/in vitro studies suggest a role in modulating adipose mass. To investigate further, we assessed the in vitro biological effect...

    journal_title:Molecular and cellular endocrinology

    pub_type: 杂志文章

    doi:10.1016/j.mce.2010.02.017

    authors: Rice SP,Zhang L,Grennan-Jones F,Agarwal N,Lewis MD,Rees DA,Ludgate M

    更新日期:2010-05-14 00:00:00