[article] inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13
| Titre : |
An investigation of NFXL1, a gene implicated in a study of specific language impairment |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
R. NUDEL, Auteur |
| Article en page(s) : |
p.13 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. |
| En ligne : |
http://dx.doi.org/10.1186/s11689-016-9146-9 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 |
[article] An investigation of NFXL1, a gene implicated in a study of specific language impairment [Texte imprimé et/ou numérique] / R. NUDEL, Auteur . - p.13. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13
| Mots-clés : |
Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. |
| En ligne : |
http://dx.doi.org/10.1186/s11689-016-9146-9 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 |
|
An investigation of NFXL1, a gene implicated in a study of specific language impairment in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
