The speech geneFOXP2is not imprinted
| العنوان: | The speech geneFOXP2is not imprinted |
|---|---|
| المؤلفون: | Gudrun E. Moore, Jennifer M. Frost, Miho Ishida, Faraneh Vargha-Khadem, Anna C. Thomas, Philip Stanier |
| المصدر: | Journal of Medical Genetics. 49:669-670 |
| بيانات النشر: | BMJ, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Genetics, Heterozygote, Language Disorders, Gene Expression, Translocation Breakpoint, Forkhead Transcription Factors, FOXP2, Biology, medicine.disease, Genomic Imprinting, medicine, Humans, Speech, Language disorder, Imprinting (psychology), Allele, Genomic imprinting, Developmental verbal dyspraxia, Gene, Alleles, Genetics (clinical) |
| الوصف: | The Forkhead-box protein P2 ( FOXP2 ) was the first gene to be linked to an inherited form of speech and language disorder, described as developmental verbal dyspraxia (DVD).1 In this study a point mutation was described in a three generation ‘KE’ family displaying autosomal dominant inheritance, while an unrelated but similar patient ‘CS’, had a translocation breakpoint at the same locus1. A subsequent report, described a series of patients with chromosomal anomalies involving FOXP2 that were inherited with parent specific origins. Although unconfirmed, this data strongly suggested that FOXP2 was likely to be maternally imprinted and therefore paternally expressed.2 Subsequently, these findings have been described as evidence supporting a theoretical role for imprinting in the evolution of language.3 DVD reflects impaired selection and sequencing of the orofacial muscle movements required for correctly articulating speech. Affected individuals have inherent problems with linguistic and grammatical processing, struggling to pronounce words, sounds and syllables correctly. FOXP2 is a transcriptional repressor that is widely distributed in the fetal and adult brain (as well as other tissues) where it is thought to regulate the expression of genes in the cortical, basal ganglia and cerebellar circuits.4 This gene has been of huge interest with evidence suggesting that evolutionary selection of FOXP2 has taken place in the human to … |
| تدمد: | 1468-6244 0022-2593 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0f4577555d9cb913c0dd6cf5c83d32Test https://doi.org/10.1136/jmedgenet-2012-101242Test |
| رقم الانضمام: | edsair.doi.dedup.....0d0f4577555d9cb913c0dd6cf5c83d32 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14686244 00222593 |
|---|