Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1

  title={Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1},
  author={N. Morrison and S. Harrap and J. Arriza and E. Boyd and J. Connor},
  journal={Human Genetics},
SummaryThe gene for human mineralocorticoid receptor (hMR), previously mapped to chromosome 4, has been further localized to 4q31.1 by in situ hybridization using a biotinylated 3.75kb human cDNA clone encoding the primary amino acid sequence of hMR as a probe. Preliminary comparative mapping studies in orangutan (Pongo pygmaeus) suggest localization of the probe to the long arm of chromosome 3. 
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).
Loss-of-function mutations of the MR gene located at 4q31.1, commonly are associated with the autosomal dominant form of PHA1, and Interestingly, neuropathy was found in two of five affected individuals. Expand
The mineralocorticoid receptor: insights into its molecular and (patho)physiological biology
The structure, molecular mechanism of action and transcriptional regulation mediated by MR are described, emphasizing the most recent developments at the cellular and molecular level. Expand
The mineralocorticoid receptor: a journey exploring its diversity and specificity of action.
The multiple levels of MR selectivity over other steroid receptors, in particular GR, will be described as well as the consequences for aldosterone-regulated gene expression. Expand
Molecular cytogenetics : its use in human gene mapping and the detection and definition of subtle chromosomal aberrations
This work involved the investigation of three different molecular cytogenetic approaches, Fluorescence In Situ Hybridisation (FISH), Comparative Genomic Hybridisation (CGH) and Primed In Situ (PRINS)Expand
Structure-function relationships in the mineralocorticoid receptor.
The role of aldosterone as an important contributor to morbidity and mortality in heart failure has gained a heightened interest in recent years, but the mechanisms of this action are not well understood. Expand
The mineralocorticoid signaling pathway throughout development: expression, regulation and pathophysiological implications.
Evidence is provided that MR expression is tightly controlled in a tissue-specific manner during development, which could have major pathophysiological implications in the neonatal period. Expand
Central mineralocorticoid receptors, sympathetic activity, and hypertension
Mechanisms by which the mineralocorticoid receptor maintains selectivity for its ligand within the central nervous system, its role in salt appetite, and the possibility of local production of corticosteroids are reviewed. Expand
Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates.
This study provides the first evidence for a low renal MR expression level at birth, despite high aldosterone levels, which could account for compromised postnatal sodium handling. Expand
The mineralocorticoid receptor: a new player controlling energy homeostasis
  • E. Kuhn, M. Lombès
  • Biology, Medicine
  • Hormone molecular biology and clinical investigation
  • 2013
Recent findings on the involvement of aldosterone but also of MR on energy metabolism are reviewed and the therapeutic potential of manipulating MR signaling for the management of metabolic disorders in humans is discussed. Expand
Zinc Finger Nuclease induced DNA double stranded breaks and rearrangements in MLL.
Although mis-repair of DSBs may be necessary for the initiation of leukemogenic translocations, a MLL targeted DNA break alone is insufficient, suggesting repair of this particular DSB is linked to non-homologous end joining (NHEJ). Expand


The human mineralocorticoid receptor gene (MLR) is located on chromosome 4 at q31.2.
The gene for the human mineralocorticoid receptor (MLR) was previously localized to chromosome 4.2 by in situ hybridization, and this precise mapping of MLR will assist in the linkage analysis and genetic characterization of pseudohypoaldosteronism. Expand
Regional chromosomal assignment of the human glucocorticoid receptor gene to 5q31
SummaryThe gene for the human glucocorticoid receptor, previously mapped to chromosome 5, has been further localised to 5q31 by in situ hybridisation using a biotinylated 4.3-kb cDNA probe.
Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor.
Together the hMR and hGR provide unexpected functional diversity in which hormone-binding properties, target gene interactions, and patterns of tissue-specific expression may be used in a combinatorial fashion to achieve complex physiologic control. Expand
Chromosomal assignment of a glutamic acid transfer RNA (tRNAGlu) gene to 1p36
In fibroblasts from gorilla (Gorilla gorilla) using biotin labelling, a single site of hybridisation occurred at 1qter which provides further support for homology of 1q in the higher apes and human 1p. Expand
Novel non-isotopic in situ hybridization technique detects small (1 Kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and beta-NGF genes.
A novel in situ hybridization technique is described that combines, for the first time, the high spacial resolution and rapid signal development of the non-isotopic approach with the previously unrivalled sensitivity of autoradiography. Expand
International System for Human Cytogenetic Nomenclature
An exceptional reading e-book entitled International System For Human Cytogenetic Nomenclature provides a thorough legal analysis and guidance to state authorities, human rights and humanitarian actors and others. Expand
The Phylogeny of Human Chromosomes
The Origin of Man, the Most Intelligent Ape, and The Human Paradox: Intelligence, Ape and Man, a Review of the Theory of Evolution, Genes, and Chromosomes. Expand
Chromosomal assignment of a glutamic acid Glu transfer RNA ( tRNA ) gene to lp 36
  • Hum Genet
  • 1989
The glucocorticoid receptor gene is in 5q–q32