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2 results on '"Poulter, JA"'

1. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Author

Ferrada MA, Savic S, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB

Published
2022
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2. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Author

Eamonn Sheridan, Chris F. Inglehearn, Murugan Saktivel, Phillis Lakeman, Rohit Shetty, Anandula Venkataramana, Manir Ali, Sabrina Carrella, Bishwanath Pal, Ian M. Carr, Alex W. Hewitt, James A. Poulter, Maria M. van Genderen, Musallam Al-Araimi, Govindasamy Kumaramanickavel, Vedam L. Ramprasad, Mike Shires, David A. Mackey, David A. Parry, Carmel Toomes, Kamron N. Khan, Andrew R. Webster, Panagiotis I. Sergouniotis, Anthony T. Moore, Sandro Banfi, Moin Mohamed, Alex Tai Loong Tan, Ivan Conte, John Bradbury, Poulter, J. A., Al-Araimi, M., Conte, I., Van Genderen, M. M., Sheridan, E., Carr, I. M., Parry, D. A., Shires, M., Carrella, S., Bradbury, J., Khan, K., Lakeman, P., Sergouniotis, P. I., Webster, A. R., Moore, A. T., Pal, B., Mohamed, M. D., Venkataramana, A., Ramprasad, V., Shetty, R., Saktivel, M., Kumaramanickavel, G., Tan, A., Mackey, D. A., Hewitt, A. W., Banfi, S., Ali, M., Inglehearn, C. F., Toomes, C., Human Genetics, Human genetics, Other Research, Poulter, Ja, Al Araimi, M, Conte, I, van Genderen, Mm, Sheridan, E, Carr, Im, Parry, Da, Shires, M, Carrella, S, Bradbury, J, Khan, K, Lakeman, P, Sergouniotis, Pi, Webster, Ar, Moore, At, Pal, B, Mohamed, Md, Venkataramana, A, Ramprasad, V, Shetty, R, Saktivel, M, Kumaramanickavel, G, Tan, A, Mackey, Da, Hewitt, Aw, Banfi, Sandro, Ali, M, and Inglehearn, Cf

Subjects
Male, Fovea Centralis, Amino Acid Transport Systems, genetic structures, Neutral, DNA Mutational Analysis, Neurodegenerative, Medical and Health Sciences, Consanguinity, 0302 clinical medicine, Foveal, 2.1 Biological and endogenous factors, Genetics(clinical), Aetiology, Child, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, 0303 health sciences, education.field_of_study, Homozygote, Syndrome, Biological Sciences, Hypoplasia, Pedigree, Phenotype, Optic nerve, Albinism, Female, Human, Population, Single-nucleotide polymorphism, Locus (genetics), Genes, Recessive, Biology, DNA Mutational Analysi, 03 medical and health sciences, Clinical Research, medicine, Recessive, Animals, Humans, education, Eye Disease and Disorders of Vision, 030304 developmental biology, Fovea Centrali, Animal, Neurosciences, Optic Nerve, medicine.disease, eye diseases, Amino Acid Transport Systems, Neutral, Genes, Mutation, 030221 ophthalmology & optometry, Congenital Structural Anomalies, sense organs
Abstract

Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

Published
2013

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