The kinetochore protein,CENPF, is mutated in human ciliopathy and microcephaly phenotypes
نویسندگان
چکیده
منابع مشابه
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
Figure S1 (A) RT-PCR of RNA from cenpf splice zebrafish morphants demonstrating specificity of splice morpholinos by aberrant splicing of cenpf mRNA in cenpf splice morphants compared to control embryos at 24 hpf. (B) Zebrafish cenpf morphants exhibit high mortality in first 24 hours. Quantification (%) of surviving zebrafish embryos injected with morpholino (MO) at 24hpf. Graphic representatio...
متن کاملErratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
BACKGROUND Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes. Using a next-generation sequencing approach, we identified mutations in a novel centriolar disease gene in a kindred with an embryonic lethal ciliopathy phenotype an...
متن کاملKinetochore KMN network gene CASC5 mutated in primary microcephaly.
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no other neurological feature nor associated malformation. Here, we report a mutation of CASC5 (aka Blinkin...
متن کاملCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis. JSRD are included in the rapidly expanding group of disorders called ciliopathies, ...
متن کاملCernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly
DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system. DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes. Failure to properly repair DSBs result...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2015
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2014-102691