Characterisation of Cdkl5 transcript isoforms in rat
نویسندگان
چکیده
منابع مشابه
Characterisation of Cdkl5 transcript isoforms in rat.
CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7kb transcript comprised of 18 exons with a large 6.6kb 3'-untranslated region (UTR). Mammalian models of CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to mode...
متن کاملCharacterisation of CDKL5 Transcript Isoforms in Human and Mouse
Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis ...
متن کامل09-P056 Identification and characterisation of chicken DMRT1 transcript isoforms
In birds, the mechanism of sex determination is unknown: it is uncertain whether the female-specific W-chromosome encodes an ovary-determining gene analogous to the mammalian testisdetermining gene, or whether testis determination is dependent on a double dose of a Z-chromosome gene(s) that escapes inactivation. In addition, birds do not carry a homologue to the Sry gene and the identity of the...
متن کاملDistribution of transcript and protein isoforms of the synaptic glycoprotein neuroplastin in rat retina.
PURPOSE To examine the expression and localization of the neuroplastins (np), two synapse-enriched members of the immunoglobulin (Ig) superfamily of cell-adhesion molecules, in the developing and adult retina and optic nerve. METHODS Expressions of the two isoforms np55 and np65 and carboxyl-terminal splice variants were investigated by immunocytochemistry, Western blot analysis, RT-PCR, and ...
متن کاملRegulatory Divergence of Transcript Isoforms in a Mammalian Model System
Phenotypic differences between species are driven by changes in gene expression and, by extension, by modifications in the regulation of the transcriptome. Investigation of mammalian transcriptome divergence has been restricted to analysis of bulk gene expression levels and gene-internal splicing. Using allele-specific expression analysis in inter-strain hybrids of Mus musculus, we determined t...
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: Gene
سال: 2017
ISSN: 0378-1119
DOI: 10.1016/j.gene.2016.12.001