Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.

关键词:

摘要: Loss of function mutations the human melanocortin 1 receptor are commonand associated with red hair.

参考文章(26)

Heiko Krude, Heike Biebermann, Werner Luck, Rüdiger Horn, Georg Brabant, Annette Grüters, Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans Nature Genetics. ,vol. 19, pp. 155- 157 ,(1998) , 10.1038/509

James J. Nordlund, The pigmentary system : physiology and pathophysiology Oxford University Press. ,(1998)

Helgi B. Schiöth, Philip Yook, Ruta Muceniece, Jarl E. S. Wikberg, Michael Szardenings, Chimeric melanocortin MC1 and MC3 receptors: identification of domains participating in binding of melanocyte-stimulating hormone peptides. Molecular Pharmacology. ,vol. 54, pp. 154- 161 ,(1998) , 10.1124/MOL.54.1.154

Per-Anders Frändberg, Marina Doufexis, Supriya Kapas, Vijay Chhajlani, Amino acid residues in third intracellular loop of melanocortin 1 receptor are involved in G-protein coupling. Iubmb Life. ,vol. 46, pp. 913- 922 ,(1998) , 10.1080/15216549800204462

Peteris Prusis, Helgi B. Schiöth, Ruta Muceniece, Pawel Herzyk, Mohammad Afshar, Roderick E. Hubbard, Jarl E.S. Wikberg, Modeling of the three-dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide Journal of Molecular Graphics & Modelling. ,vol. 15, pp. 307- 317 ,(1997) , 10.1016/S1093-3263(98)00004-7

Helgi B Schiöth, Susanna Petersson, Ruta Muceniece, Michael Szardenings, Jarl E.S Wikberg, Deletions of the N-terminal regions of the human melanocortin receptors FEBS Letters. ,vol. 410, pp. 223- 228 ,(1997) , 10.1016/S0014-5793(97)00593-0

P.A. Frandberg, R. Muceniece, P. Prusis, J. Wikberg, V. Chhajlani, Evidence for alternate points of attachment for alpha-MSH and its stereoisomer [Nle4, D-Phe7]-alpha-MSH at the melanocortin-1 receptor. Biochemical and Biophysical Research Communications. ,vol. 202, pp. 1266- 1271 ,(1994) , 10.1006/BBRC.1994.2067

Paloma Valverde, Eugene Healy, Ian Jackson, Jonathan L. Rees, Anthony J. Thody, Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genetics. ,vol. 11, pp. 328- 330 ,(1995) , 10.1038/NG1195-328

Linda S Robbins, Joseph H Nadeau, Kenneth R Johnson, Michele A Kelly, Linda Roselli-Rehfuss, Eric Baack, Kathleen G Mountjoy, Roger D Cone, Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function Cell. ,vol. 72, pp. 827- 834 ,(1993) , 10.1016/0092-8674(93)90572-8

Giuseppe Prota, Melanins and melanogenesis ,(1992)