Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6.
SLC24A5
CRISPR/Cas9
NCKX5
OCA6
retinal pigment epithelium
Journal
Pigment cell & melanoma research
ISSN: 1755-148X
Titre abrégé: Pigment Cell Melanoma Res
Pays: England
ID NLM: 101318927
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
revised:
24
11
2021
received:
27
09
2021
accepted:
01
12
2021
pubmed:
7
12
2021
medline:
30
4
2022
entrez:
6
12
2021
Statut:
ppublish
Résumé
Oculocutaneous albinism (OCA) 6 is a non-syndromic type of OCA that has distinct ocular symptoms and variable cutaneous hypopigmentation. The causative gene of OCA6 is SLC24A5, which encodes NCKX5, a K
Substances chimiques
SLC24A5 protein, human
0
Sodium-Calcium Exchanger
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
212-219Informations de copyright
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Bertolotti, A., Lasseaux, E., Plaisant, C., Trimouille, A., Morice-Picard, F., Rooryck, C., Lacombe, D., Couppie, P., & Arveiler, B. (2016). Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. Pigment Cell and Melanoma Research, 29(1), 104-106. https://doi.org/10.1111/pcmr.12425
d’Ischia, M., Wakamatsu, K., Napolitano, A., Briganti, S., Garcia-Borron, J. C., Kovacs, D., Meredith, P., Pezzella, A., Picardo, M., Sarna, T., Simon, J. D., & Ito, S. (2013). Melanins and melanogenesis: Methods, standards, protocols. Pigment Cell and Melanoma Research, 26(5), 616-633. https://doi.org/10.1111/pcmr.12121
Ginger, R. S., Askew, S. E., Ogborne, R. M., Wilson, S., Ferdinando, D., Dadd, T., Smith, A. M., Kazi, S., Szerencsei, R. T., Winkfein, R. J., Schnetkamp, P. P. M., & Green, M. R. (2008). SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. Journal of Biological Chemistry, 283(9), 5486-5495. https://doi.org/10.1074/jbc.M707521200
Hashimoto, M., & Takemoto, T. (2015). Electroporation enables the efficient mRNA delivery into the mouse zygotes and facilitates CRISPR/Cas9-based genome editing. Scientific Reports, 5(June), 1-3. https://doi.org/10.1038/srep11315
Ito, S., Nakanishi, Y., Valenzuela, R. K., Brilliant, M. H., Kolbe, L., & Wakamatsu, K. (2011). Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: Application to chemical analysis of human hair melanins. Pigment Cell and Melanoma Research, 24(4), 605-613. https://doi.org/10.1111/j.1755-148X.2011.00864.x
Ito, S., & Wakamatsu, K. (2003). Quantitative analysis of eumelanin and pheomelanin in humans, mice, and other animals: A comparative review. Pigment Cell Research, 16(5), 523-531. https://doi.org/10.1034/j.1600-0749.2003.00072.x
Iwai-Takekoshi, L., Ramos, A., Schaler, A., Weinreb, S., Blazeski, R., & Mason, C. (2016). Retinal pigment epithelial integrity is compromised in the developing albino mouse retina. Journal of Comparative Neurology, 524(18), 3696-3716. https://doi.org/10.1002/cne.24025
Kirkwood, B. J. (2009). Albinism and its implications with vision. Insight, 34(2), 13-16.
Lasseaux, E., Plaisant, C., Michaud, V., Pennamen, P., Trimouille, A., Gaston, L., Monfermé, S., Lacombe, D., Rooryck, C., Morice-Picard, F., & Arveiler, B. (2018). Molecular characterization of a series of 990 index patients with albinism. Pigment Cell and Melanoma Research, 31(4), 466-474. https://doi.org/10.1111/pcmr.12688
Morice-Picard, F., Lasseaux, E., François, S., Simon, D., Rooryck, C., Bieth, E., Colin, E., Bonneau, D., Journel, H., Walraedt, S., Leroy, B. P., Meire, F., Lacombe, D., & Arveiler, B. (2014). SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. Journal of Investigative Dermatology, 134(2), 568-571. https://doi.org/10.1038/jid.2013.360
Murisier, F., & Beermann, F. (2006). Genetics of pigment cells: Lessons from the tyrosinase gene family. Histology and Histopathology, 21(4-6), 567-578. https://doi.org/10.14670/HH-21.567
Okamura, K., Abe, Y., Araki, Y., Wakamatsu, K., Seishima, M., Umetsu, T., Kato, A., Kawaguchi, M., Hayashi, M., Hozumi, Y., & Suzuki, T. (2018). Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. Pigment Cell and Melanoma Research, 31(2), 267-276. https://doi.org/10.1111/pcmr.12662
Okamura, K., Hayashi, M., Abe, Y., Kono, M., Nakajima, K., Aoyama, Y., Nishigori, C., Ishimoto, H., Ishimatsu, Y., Nakajima, M., Hozumi, Y., & Suzuki, T. (2019). NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism. Pigment Cell and Melanoma Research, 32(6), 848-853. https://doi.org/10.1111/pcmr.12800
Okamura, K., & Suzuki, T. (2021). Current landscape of Oculocutaneous Albinism in Japan. Pigment Cell and Melanoma Research, 34(2), 190-203. https://doi.org/10.1111/pcmr.12927
Rogasevskaia, T. P., Szerencsei, R. T., Jalloul, A. H., Visser, F., Winkfein, R. J., & Schnetkamp, P. P. M. (2019). Cellular localization of the K + -dependent Na + -Ca 2+ exchanger NCKX5 and the role of the cytoplasmic loop in its distribution in pigmented cells. Pigment Cell and Melanoma Research, 32(1), 55-67. https://doi.org/10.1111/pcmr.12723
Sitaram, A., & Marks, M. S. (2012). Mechanisms of protein delivery to melanosomes in pigment cells. Physiology, 27(2), 85-99. https://doi.org/10.1152/physiol.00043.2011
Strauss, O. (2005). The retinal pigment epithelium in visual function. Physiological Reviews, 85(3), 845-881. https://doi.org/10.1152/physrev.00021.2004
Tomita, Y., & Suzuki, T. (2004). Genetics of pigmentary disorders. American Journal of Medical Genetics - Seminars in Medical. Genetics, 131C(1), 75-81. https://doi.org/10.1002/ajmg.c.30036
Veniani, E., Mauri, L., Manfredini, E., Gesu, G. P., Patrosso, M. C., Zelante, L., D’Agruma, L., Del Longo, A., Mazza, M., Piozzi, E., Penco, S., & Primignani, P. (2016). Detection of the first OCA6 Italian patient in a large cohort of albino subjects. Journal of Dermatological Science, 81(3), 208-209. https://doi.org/10.1016/j.jdermsci.2015.11.012
Vogel, P., Read, R. W., Vance, R. B., Platt, K. A., Troughton, K., & Rice, D. S. (2008). Animal models of human disease. Veterinary Pathology, 45(2), 264-279. https://doi.org/10.1354/vp.45-2-264
Wakamatsu, K., Ito, S., & Rees, J. L. (2002). The usefulness of 4-amino-3-hydroxyphenylalanine as a specific marker of pheomelanin. Pigment Cell Research, 15(3), 225-232. https://doi.org/10.1034/j.1600-0749.2002.02009.x
Wei, A., Yuan, Y., Qi, Z., Liu, T., Bai, D., Zhang, Y., Yu, J., Yang, L., Yang, X., & Li, W. (2019). Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. Pigment Cell and Melanoma Research, 32(3), 373-380. https://doi.org/10.1111/pcmr.12748
Wei, A. H., Zang, D. J., Zhang, Z., Liu, X. Z., He, X., Yang, L., Wang, Y., Zhou, Z. Y., Zhang, M. R., Dai, L. L., Yang, X. M., & Li, W. (2013). Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. Journal of Investigative Dermatology, 133(7), 1834-1840. https://doi.org/10.1038/jid.2013.49
Zhang, Y., Zhang, Y., Liu, T., Bai, D., Yang, X., Li, W., & Wei, A. (2019). Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. Journal of Dermatology, 46(11), 1027-1030. https://doi.org/10.1111/1346-8138.15065
Zhang, Z., Gong, J., Sviderskaya, E. V., Wei, A., & Li, W. (2019). Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production. Journal of Cell Science, 132(14), 1-12. https://doi.org/10.1242/jcs.232009