Pathophysiology of melanocortin receptors and their accessory proteins

被引：38

作者：

Novoselova, T. V. ^{[1
]}

Chan, L. F. ^{[1
]}

Clark, A. J. L. ^{[1
]}

机构：

[1] Queen Mary Univ London, Ctr Endocrinol, William Harvey Res Inst, Chartehouse Sq, London EC1M 6BQ, England

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2018年 / 32卷 / 02期

基金：

英国医学研究理事会;

关键词：

melanocortin; melanocortin receptors; accessory proteins; metabolism; adrenal gland; obesity; FAMILIAL GLUCOCORTICOID DEFICIENCY; MELANOCYTE-STIMULATING-HORMONE; PROOPIOMELANOCORTIN-DERIVED PEPTIDES; ENERGY HOMEOSTASIS; ACTH RECEPTOR; FRAMESHIFT MUTATION; BLOOD-PRESSURE; MC1R VARIANTS; MC4R AGONIST; BODY-WEIGHT;

D O I：

10.1016/j.beem.2018.02.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MCI R is expressed in skin and variants in the MC1R gene are associated with ginger hair color. The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial glucocorticoid deficiency (FGD). MC3R and MC4R are involved in metabolic regulation and their gene variants are associated with severe pediatric obesity, whereas the function of MC5R remains to be fully elucidated. MRAPs have been shown to modulate the function of MCRs and genetic variants in MRAPs are associated with diseases including FGD type 2 and potentially early onset obesity. This review provides an insight into recent advances in MCRs and MRAPs physiology, focusing on the disorders associated with their dysfunction. (C) 2018 Elsevier Ltd. All rights reserved.

引用

页码：93 / 106

页数：14

共 123 条

[1] Regulation of feeding and energy homeostasis by α-MSH [J].

Anderson, Erica J. P. ;

Cakir, Isin ;

Carrington, Sheridan J. ;

Cone, Roger D. ;

Ghamari-Langroudi, Masoud ;

Gillyard, Taneisha ;

Gimenez, Luis E. ;

Litt, Michael J. .

JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2016, 56 (04) :T157-T174

[2] Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity [J].

Asai, Masato ;

Ramachandrappa, Shwetha ;

Joachim, Maria ;

Shen, Yuan ;

Zhang, Rong ;

Nuthalapati, Nikhil ;

Ramanathan, Visali ;

Strochlic, David E. ;

Ferket, Peter ;

Linhart, Kirsten ;

Ho, Caroline ;

Novoselova, Tatiana V. ;

Garg, Sumedha ;

Ridderstrale, Martin ;

Marcus, Claude ;

Hirschhorn, Joel N. ;

Keogh, Julia M. ;

O'Rahilly, Stephen ;

Chan, Li F. ;

Clark, Adrian J. ;

Farooqi, I. Sadaf ;

Majzoub, Joseph A. .

SCIENCE, 2013, 341 (6143) :275-278

[3] Divergence of melanocortin pathways in the control of food intake and energy expenditure [J].

Balthasar, N ;

Dalgaard, LT ;

Lee, CE ;

Yu, J ;

Funahashi, H ;

Williams, T ;

Ferreira, M ;

Tang, V ;

McGovern, RA ;

Kenny, CD ;

Christiansen, LM ;

Edelstein, E ;

Choi, B ;

Boss, O ;

Aschkenasi, C ;

Zhang, CY ;

Mountjoy, K ;

Kishi, T ;

Elmquist, JK ;

Lowell, BB .

CELL, 2005, 123 (03) :493-505

[4] Melanocortin-3 receptors are involved in adaptation to restricted feeding [J].

Begriche, K. ;

Marston, O. J. ;

Rossi, J. ;

Burke, L. K. ;

McDonald, P. ;

Heisler, L. K. ;

Butler, A. A. .

GENES BRAIN AND BEHAVIOR, 2012, 11 (03) :291-302

[5] PC1 AND PC2 ARE PROPROTEIN CONVERTASES CAPABLE OF CLEAVING PROOPIOMELANOCORTIN AT DISTINCT PAIRS OF BASIC RESIDUES [J].

BENJANNET, S ;

RONDEAU, N ;

DAY, R ;

CHRETIEN, M ;

SEIDAH, NG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (09) :3564-3568

[6] Genome-wide association study identifies three loci associated with melanoma risk [J].

Bishop, D. Timothy ;

Demenais, Florence ;

Iles, Mark M. ;

Harland, Mark ;

Taylor, John C. ;

Corda, Eve ;

Randerson-Moor, Juliette ;

Aitken, Joanne F. ;

Avril, Marie-Francoise ;

Azizi, Esther ;

Bakker, Bert ;

Bianchi-Scarra, Giovanna ;

Bressac-de Paillerets, Brigitte ;

Calista, Donato ;

Cannon-Albright, Lisa A. ;

Chin-A-Woeng, Thomas ;

Debniak, Tadeusz ;

Galore-Haskel, Gilli ;

Ghiorzo, Paola ;

Gut, Ivo ;

Hansson, Johan ;

Hocevar, Marko ;

Hoiom, Veronica ;

Hopper, John L. ;

Ingvar, Christian ;

Kanetsky, Peter A. ;

Kefford, Richard F. ;

Landi, Maria Teresa ;

Lang, Julie ;

Lubinski, Jan ;

Mackie, Rona ;

Malvehy, Josep ;

Mann, Graham J. ;

Martin, Nicholas G. ;

Montgomery, Grant W. ;

van Nieuwpoort, Frans A. ;

Novakovic, Srdjan ;

Olsson, Hakan ;

Puig, Susana ;

Weiss, Marjan ;

van Workum, Wilbert ;

Zelenika, Diana ;

Brown, Kevin M. ;

Goldstein, Alisa M. ;

Gillanders, Elizabeth M. ;

Boland, Anne ;

Galan, Pilar ;

Elder, David E. ;

Gruis, Nelleke A. ;

Hayward, Nicholas K. .

NATURE GENETICS, 2009, 41 (08) :920-U85

[7] Role of Proopiomelanocortin-Derived Peptides and Their Receptors in the Osteoarticular System: From Basic to Translational Research [J].

Boehm, Markus ;

Graessel, Susanne .

ENDOCRINE REVIEWS, 2012, 33 (04) :623-651

[8] Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair [J].

Box, NF ;

Wyeth, JR ;

OGorman, LE ;

Martin, NG ;

Sturm, RA .

HUMAN MOLECULAR GENETICS, 1997, 6 (11) :1891-1897

[9] Binding of α-melanocyte-stimulating hormone to its G-protein-coupled receptor on B-lymphocytes activates the Jak/STAT pathway [J].

Buggy, JJ .

BIOCHEMICAL JOURNAL, 1998, 331 :211-216

[10] MOLECULAR CHARACTERIZATION OF THE MOUSE AGOUTI LOCUS [J].

BULTMAN, SJ ;

MICHAUD, EJ ;

WOYCHIK, RP .

CELL, 1992, 71 (07) :1195-1204

← 1 2 3 4 5 6 7 8 9 10 →