Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis
G. Cirillo
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorR. Marini
Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy
Search for more papers by this authorS. Ito
Fujita Health University School of Health Sciences, Toyoake, Japan
Search for more papers by this authorK. Wakamatsu
Fujita Health University School of Health Sciences, Toyoake, Japan
Search for more papers by this authorS. Scianguetta
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorC. Bizzarri
Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy
Search for more papers by this authorA. Romano
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorA. Grandone
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorL. Perrone
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorM. Cappa
Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy
Search for more papers by this authorE. Miraglia del Giudice
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorG. Cirillo
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorR. Marini
Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy
Search for more papers by this authorS. Ito
Fujita Health University School of Health Sciences, Toyoake, Japan
Search for more papers by this authorK. Wakamatsu
Fujita Health University School of Health Sciences, Toyoake, Japan
Search for more papers by this authorS. Scianguetta
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorC. Bizzarri
Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy
Search for more papers by this authorA. Romano
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorA. Grandone
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorL. Perrone
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorM. Cappa
Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy
Search for more papers by this authorE. Miraglia del Giudice
Department of Pediatrics, ‘F. Fede’ Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 2, 80138 Naples, Italy
Search for more papers by this authorFunding sources: none.
Conflicts of interest: none declared.
References
- 1 Pritchard LE, Turnbull AV, White A. Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity. J Endocrinol 2002; 172: 411–21.
- 2 Challis BG, Coll AP, Yeo GS et al. Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3–36). Proc Natl Acad Sci USA 2004; 101: 4695–700.
- 3 Krude H, Biebermann H, Luck R et al. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998; 19: 155–7.
- 4 Simon JD, Peles D, Wakamatsu K, Ito S. Current challenges in understanding melanogenesis: bridging chemistry, biological control, morphology, and function. Pigment Cell Melanoma Res 2009; 22: 563–79.
- 5 Wakamatsu K, Ito S, Rees JL. The usefulness of 4-amino-3-hydroxyphenylalanine as a specific marker of phaeomelanin. Pigment Cell Res 2002; 15: 225–32.
- 6 Farooqi IS, Drop S, Clements A et al. Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes 2006; 55: 49–53.
- 7 Clément K, Dubern B, Mencarelli M et al. Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene. J Clin Endocrinol Metab 2008; 93: 4955–62.
- 8 Mendiratta MS, Yang Y, Balazs AE et al. Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation. Int J Pediatr Endocrinol 2011; 2011: 5.
- 9 Tan JT, Kremer F, Freddi S et al. Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3′ UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. Am J Hum Genet 2008; 82: 786–93.
- 10 Graham A, Wakamatsu K, Hunt G et al. Agouti protein inhibits the production of eumelanin and phaeomelanin in the presence and absence of alpha-melanocyte stimulating hormone. Pigment Cell Res 1997; 10: 298–303.
- 11 Sanchez-Mas J, Hahmann C, Gerritsen I et al. Agonist-independent, high constitutive activity of the human melanocortin 1 receptor. Pigment Cell Res 2004; 17: 386–95.
- 12 Slominski A, Plonka PM, Pisarchik A et al. Preservation of eumelanin hair pigmentation in proopiomelanocortin-deficient mice on a nonagouti (a/a) genetic background. Endocrinology 2005; 146: 1245–53.
