메뉴 건너뛰기




Volumn 24, Issue 5, 2011, Pages 944-952

UBE3A regulates MC1R expression: A link to hypopigmentation in Angelman syndrome

Author keywords

Angelman syndrome; E6AP; Hypopigmentation; MC1R

Indexed keywords

MELANOCORTIN 1 RECEPTOR; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A; UNCLASSIFIED DRUG;

EID: 80053895262     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/j.1755-148X.2011.00884.x     Document Type: Article
Times cited : (15)

References (34)
  • 1
    • 0032764095 scopus 로고    scopus 로고
    • The melanocortin-1 receptor and human pigmentation
    • T.A., Luger, R., Paus, J.M., Lipton, and A.T., Slominski, eds. (New York: Annals of the New York Academy of Sciences)
    • Abdel-Malek, Z., Suzuki, I., Tada, A., Im, S., and Akcali, C. (1999). The melanocortin-1 receptor and human pigmentation. In Cutaneous Neuroimmunomodulation: The Proopiomelanocortin System, T.A., Luger, R., Paus, J.M., Lipton, and A.T., Slominski, eds. (New York: Annals of the New York Academy of Sciences), pp. 117-133.
    • (1999) Cutaneous Neuroimmunomodulation: The Proopiomelanocortin System , pp. 117-133
    • Abdel-Malek, Z.1    Suzuki, I.2    Tada, A.3    Im, S.4    Akcali, C.5
  • 2
    • 0034650695 scopus 로고    scopus 로고
    • Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice
    • Adachi, S., Morii, E., Kim, D.K., Ogihara, H., Jippo, T., Ito, A., Lee, Y.M., and Kitamura, Y. (2000). Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice. J. Immunol. 164, 855-860.
    • (2000) J. Immunol. , vol.164 , pp. 855-860
    • Adachi, S.1    Morii, E.2    Kim, D.K.3    Ogihara, H.4    Jippo, T.5    Ito, A.6    Lee, Y.M.7    Kitamura, Y.8
  • 3
    • 0034920620 scopus 로고    scopus 로고
    • Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population
    • Akey, J.M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M.D., and Jin, L. (2001). Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum. Genet. 108, 516-520.
    • (2001) Hum. Genet. , vol.108 , pp. 516-520
    • Akey, J.M.1    Wang, H.2    Xiong, M.3    Wu, H.4    Liu, W.5    Shriver, M.D.6    Jin, L.7
  • 5
    • 0037144311 scopus 로고    scopus 로고
    • Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R)
    • Aoki, H., and Moro, O. (2002). Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R). Life Sci. 71, 2171-2179.
    • (2002) Life Sci. , vol.71 , pp. 2171-2179
    • Aoki, H.1    Moro, O.2
  • 7
    • 0025310643 scopus 로고
    • A helix-loop-helix protein related to the immunoglobulin E box-binding proteins
    • Carr, C.S., and Sharp, P.A. (1990). A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Mol. Cell. Biol. 10, 4384-4388.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 4384-4388
    • Carr, C.S.1    Sharp, P.A.2
  • 8
    • 80053915175 scopus 로고    scopus 로고
    • In DNA Transfer to Cultured Cells: Calcium phosphate transfection, K., Ravid, and R.I., Fresney. (New York: Wiley-Liss).
    • Conn, K.J., Degterev, A., Fontanilla, M.R., Rich, C.B., and Foster, J.A. (1998). In DNA Transfer to Cultured Cells: Calcium phosphate transfection, K., Ravid, and R.I., Fresney. (New York: Wiley-Liss).
    • (1998)
    • Conn, K.J.1    Degterev, A.2    Fontanilla, M.R.3    Rich, C.B.4    Foster, J.A.5
  • 9
    • 0042322345 scopus 로고    scopus 로고
    • Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene
    • Fridman, C., Hosomi, N., Varela, M.C., Souza, A.H., Fukai, K., and Koiffmann, C.P. (2003). Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am. J. Med. Genet. A 119A, 180-183.
    • (2003) Am. J. Med. Genet. A , vol.119 , pp. 180-183
    • Fridman, C.1    Hosomi, N.2    Varela, M.C.3    Souza, A.H.4    Fukai, K.5    Koiffmann, C.P.6
  • 10
    • 0032518262 scopus 로고    scopus 로고
    • MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes
    • Hemesath, T.J., Price, E.R., Takemoto, C., Badalian, T., and Fisher, D.E. (1998). MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391, 298-301.
    • (1998) Nature , vol.391 , pp. 298-301
    • Hemesath, T.J.1    Price, E.R.2    Takemoto, C.3    Badalian, T.4    Fisher, D.E.5
  • 11
    • 0028907874 scopus 로고
    • A family of proteins structurally and functionally related to the E6-AP ubiquitin protein ligase
    • Huibregtse, J.M., Scheffner, M., Beaudenon, S., and Howley, P.M. (1995). A family of proteins structurally and functionally related to the E6-AP ubiquitin protein ligase. Proc. Natl Acad. Sci. USA 92, 2563-2567.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 2563-2567
    • Huibregtse, J.M.1    Scheffner, M.2    Beaudenon, S.3    Howley, P.M.4
  • 12
    • 0029348767 scopus 로고
    • Eumelanin and pheomelanin contents of human epidermis and cultured melanocytes
    • Hunt, G., Kyne, S., Ito, S., Wakamatsu, K., Todd, C., and Thody, A.J. (1995). Eumelanin and pheomelanin contents of human epidermis and cultured melanocytes. Pigment Cell Res. 8, 202-208.
    • (1995) Pigment Cell Res. , vol.8 , pp. 202-208
    • Hunt, G.1    Kyne, S.2    Ito, S.3    Wakamatsu, K.4    Todd, C.5    Thody, A.J.6
  • 14
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino, T., Lalande, M., and Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 15, 70-73.
    • (1997) Nat. Genet. , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 16
    • 18244383565 scopus 로고    scopus 로고
    • Distinct phenotypes distinguish the molecular classes of Angelman syndrome
    • Lossie, A.C., Whitney, M.M., Amidon, D. et al. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J. Med. Genet. 38, 834-845.
    • (2001) J. Med. Genet. , vol.38 , pp. 834-845
    • Lossie, A.C.1    Whitney, M.M.2    Amidon, D.3
  • 17
    • 77958466458 scopus 로고    scopus 로고
    • Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation
    • Low, D., and Chen, K.S. (2010). Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. Eur. J. Hum. Genet. 18, 1228-1235.
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 1228-1235
    • Low, D.1    Chen, K.S.2
  • 18
    • 0033610058 scopus 로고    scopus 로고
    • Characterization of the promoter region of the human melanocortin-l receptor (MC1R) gene
    • Moro, O., Ideta, R., and Ifuku, O. (1999). Characterization of the promoter region of the human melanocortin-l receptor (MC1R) gene. Biochem. Biophys. Res. Commun. 262, 452-460.
    • (1999) Biochem. Biophys. Res. Commun. , vol.262 , pp. 452-460
    • Moro, O.1    Ideta, R.2    Ifuku, O.3
  • 19
    • 22744450397 scopus 로고    scopus 로고
    • Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner
    • Murakami, H., and Arnheiter, H. (2005). Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner. Pigment Cell Res. 18, 265-277.
    • (2005) Pigment Cell Res. , vol.18 , pp. 265-277
    • Murakami, H.1    Arnheiter, H.2
  • 20
    • 0032907106 scopus 로고    scopus 로고
    • The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily
    • Nawaz, Z., Lonard, D.H., Smith, C.L., Lev-Lehman, E., Tsai, S.Y., Tsai, M.J., and O'malley, B.W. (1999). The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. Mol. Cell. Biol. 19, 1182-1189.
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 1182-1189
    • Nawaz, Z.1    Lonard, D.H.2    Smith, C.L.3    Lev-Lehman, E.4    Tsai, S.Y.5    Tsai, M.J.6    O'malley, B.W.7
  • 22
    • 0018854108 scopus 로고
    • Recent advances in the chemistry of melanogenesis in mammals
    • Prota, G. (1980). Recent advances in the chemistry of melanogenesis in mammals. J. Invest. Dermatol. 75, 122-127.
    • (1980) J. Invest. Dermatol. , vol.75 , pp. 122-127
    • Prota, G.1
  • 23
    • 0025351398 scopus 로고
    • Mechanism of transcriptional activation by SP1 - evidence for coactivators
    • Pugh, B.F., and Tjian, R. (1990). Mechanism of transcriptional activation by SP1 - evidence for coactivators. Cell 61, 1187-1197.
    • (1990) Cell , vol.61 , pp. 1187-1197
    • Pugh, B.F.1    Tjian, R.2
  • 25
    • 0037351881 scopus 로고    scopus 로고
    • Cyclic, proteasome-mediated turnover of unliganded and liganded ER alpha on responsive promoters is an integral feature of estrogen signaling
    • Reid, G., Hubner, M.R., Metivier, R., Brand, H., Denger, S., Manu, D., Beaudouin, J., Ellenberg, J., and Gannon, F. (2003). Cyclic, proteasome-mediated turnover of unliganded and liganded ER alpha on responsive promoters is an integral feature of estrogen signaling. Mol. Cell 11, 695-707.
    • (2003) Mol. Cell , vol.11 , pp. 695-707
    • Reid, G.1    Hubner, M.R.2    Metivier, R.3    Brand, H.4    Denger, S.5    Manu, D.6    Beaudouin, J.7    Ellenberg, J.8    Gannon, F.9
  • 26
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • Rougeulle, C., Glatt, H., and Lalande, M. (1997). The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat. Genet. 17, 14-15.
    • (1997) Nat. Genet. , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 27
    • 0028064274 scopus 로고
    • Molecular and clinical study of 61 Angelman syndrome patients
    • Saitoh, S., Harada, N., Jinno, Y. et al. (1994). Molecular and clinical study of 61 Angelman syndrome patients. Am. J. Med. Genet. 52, 158-163.
    • (1994) Am. J. Med. Genet. , vol.52 , pp. 158-163
    • Saitoh, S.1    Harada, N.2    Jinno, Y.3
  • 28
    • 0034017934 scopus 로고    scopus 로고
    • Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
    • Saitoh, S., Oiso, N., Wada, T., Narazaki, O., and Fukai, K. (2000). Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J. Med. Genet. 37, 392-394.
    • (2000) J. Med. Genet. , vol.37 , pp. 392-394
    • Saitoh, S.1    Oiso, N.2    Wada, T.3    Narazaki, O.4    Fukai, K.5
  • 29
    • 0027358723 scopus 로고
    • The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of P53
    • Scheffner, M., Huibregtse, J.M., Vierstra, R.D., and Howley, P.M. (1993). The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of P53. Cell 75, 495-505.
    • (1993) Cell , vol.75 , pp. 495-505
    • Scheffner, M.1    Huibregtse, J.M.2    Vierstra, R.D.3    Howley, P.M.4
  • 30
    • 0028898424 scopus 로고
    • Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
    • Scheffner, M., Nuber, U., and Huibregtse, J.M. (1995). Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373, 81-83.
    • (1995) Nature , vol.373 , pp. 81-83
    • Scheffner, M.1    Nuber, U.2    Huibregtse, J.M.3
  • 32
    • 0030969388 scopus 로고    scopus 로고
    • Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
    • Stevens, G., Ramsay, M., and Jenkins, T. (1997). Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum. Genet. 99, 523-527.
    • (1997) Hum. Genet. , vol.99 , pp. 523-527
    • Stevens, G.1    Ramsay, M.2    Jenkins, T.3
  • 33
    • 33644865491 scopus 로고    scopus 로고
    • Angelman syndrome 2005: updated consensus for diagnostic criteria
    • Williams, C.A., Beaudet, A.L., Clayton-Smith, J. et al. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. Am. J. Med. Genet. A 140A, 413-418.
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 413-418
    • Williams, C.A.1    Beaudet, A.L.2    Clayton-Smith, J.3
  • 34
    • 0034653813 scopus 로고    scopus 로고
    • Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9
    • Xu, W.D., Gong, L.M., Haddad, M.M., Bischof, O., Campisi, J., Yeh, E.T.H., and Medrano, E.E. (2000). Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9. Exp. Cell Res. 255, 135-143.
    • (2000) Exp. Cell Res. , vol.255 , pp. 135-143
    • Xu, W.D.1    Gong, L.M.2    Haddad, M.M.3    Bischof, O.4    Campisi, J.5    Yeh, E.T.H.6    Medrano, E.E.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.