RAPID COMMUNICATION: A Novel Melanocortin 4 Receptor (MC4R) Gene Mutation Associated with Morbid Obesity
نویسندگان
چکیده
منابع مشابه
Rapid communication: linkage and physical mapping of the porcine melanocortin-4 receptor (MC4R) gene.
Genus and Species. Sus scrofa. Locus. Pig Melanocortin-4 Receptor (MC4R) gene. Source and Description of Primers. Primers were designed from well-conserved sequence regions between the human and rat MC4R genes (Genbank accession no. S77415 and U67863, respectively). The primers were used to amplify approximately 760 bp of the porcine MC4R gene from genomic DNA. The sequence of the PCR product s...
متن کاملA Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity.
The melanocortin-4 receptor (MC4R) is a member of the seven membrane-spanning G protein-coupled receptor superfamily and signals through the activation of adenylyl cyclase. The MC4R mutations are the most common known monogenic cause of human obesity. However, no such mutations have been found in Japanese obese subjects. Here we report a novel homozygous missense mutation of MC4R (G98R) in a no...
متن کاملAssociation between the Melanocortin-4 Receptor (MC4R) Gene Polymorphisms and Growth Trait in Sumba Ongole Cattle
Melanocortin-4 receptor (MC4R) gene has been known as a candidate gene for growth traits in livestock. This research was aimed to identify the polymorphism of MC4R gene and its association with growth traits in Sumba Ongole (SO) cattle. The growth traits data consist of body weight and body size. Eighty four blood samples were collected and used for DNA isolation. The...
متن کاملDominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
Over 20 severely obese subjects in 11 independent kindreds have been reported to have pathogenic heterozygous mutations in the gene encoding the melanocortin 4 receptor (MC4R), making this the most common known monogenic cause of human obesity. To date, the detailed clinical phenotype of this dominantly inherited disorder has not been defined, and no homozygous subjects have been described. We ...
متن کاملA Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding
Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous mutations (P272L, N74I) in two patients inherited from their obese mothers. A rare polymorphism (I251L, allelic frequency: 1/100) reported to protect...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Endocrinology & Metabolism
سال: 2001
ISSN: 0021-972X
DOI: 10.1210/jc.86.7.3448