Developmental expression of Xenopus fragile X mental retardation-1 gene.
نویسندگان
چکیده
Dysregulation of Fragile X mental retardation-1 (Fmr1) gene expression results in an inherited form of mental retardation known as the Fragile X syndrome (FXS). Fmr1 is a highly conserved gene with a broad yet distinctive expression pattern during vertebrate development. Here, we examined the expression pattern of Fmr1 during Xenopus embryonic development. Zygotic expression of Fmr1 began just prior to gastrulation and gradually increased during subsequent embryonic stages. By in situ hybridization, Fmr1 transcripts were detected by early tailbud stage and showed robust expression in the central nervous system (CNS), eye and pharyngeal arches. By late tailbud stage, Fmr1 expression became stronger in the CNS and craniofacial regions including the ear vesicle and eye. In addition, the notochord expressed high levels of Fmr1 transcripts in the late tailbud stage embryos. In the tadpole brain, the olfactory bulb and cerebellum exhibited strong Fmr1 expression. The developmental expression pattern of Fmr1 is consistent with the wide range of abnormalities observed in FXS. Further, our findings indicate that Xenopus will serve as an excellent model to study the developmental basis of this disease.
منابع مشابه
Evidence that fragile X mental retardation protein is a negative regulator of translation.
Fragile X syndrome is a common form of inherited mental retardation. Most fragile X patients exhibit mutations in the fragile X mental retardation gene 1 (FMR1) that lead to transcriptional silencing and hence to the absence of the fragile X mental retardation protein (FMRP). Since FMRP is an RNA-binding protein which associates with polyribosomes, it had been proposed to function as a regulato...
متن کاملAP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.
Fragile X syndrome (FXS) is almost always caused by silencing of the FMR1 gene. The defects observed in FXS indicate that the normal FMR1 gene has a range of functions and plays a particularly prominent role during development. However, the mechanisms regulating FMR1 expression in vivo are not known. Here, we have tested the role of the transcription factor AP-2alpha in regulating Fmr1 expressi...
متن کاملسندرم ایکس شکننده و گزارش 3 مورد (بررسی سیتوژنیک و ملکولی)
ABSTRACT The fragile X syndrome is the most frequent cause of inherited mental retardation. The fragile site is on the long arm of X chromosome in X q27.3 region. Incidence of syndrome is 1 in 2000 in males and 1 in 2500 in females. This fragile site is visible only with using of special cultural technices. Since females have two X chromosomes, this signs apear less than males. The females who...
متن کاملگزارش یک مورد سندرم ایکس شکننده همراه با ناهنجاری انگشتان
Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior di...
متن کاملGenetic Testing for FMR1 Mutations (Including Fragile X Syndrome)
Patient Selection Criteria Coverage eligibility will be considered for fragile X mental retardation 1 (FMR1) mutations the following patient populations: Individuals of either sex with intellectual disability, developmental delay, or autism spectrum disorder (see Policy Guidelines ◊ ). Prenatal testing of fetuses of known carrier mothers (see Policy Guidelines ◊ ). Affected individuals or...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The International journal of developmental biology
دوره 49 8 شماره
صفحات -
تاریخ انتشار 2005