Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
نویسندگان
چکیده
منابع مشابه
Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons.
Alu exonization, which is an evolutionary pathway that creates primate-specific transcriptomic diversity, is a powerful tool for studying alternative-splicing regulation. Through bioinformatic analyses combined with experimental methodology, we identified the mutational changes needed to create functional 5' splice sites in Alu. We revealed a complex mechanism by which the sequence composition ...
متن کاملA deletion mutation causes hemophilia B in Lhasa Apso dogs.
Hemophilia B is a bleeding disorder caused by a deficiency of clotting factor IX (FIX). A colony of FIX deficient Lhasa Apso dogs has been established and the molecular basis of hemophilia B has been determined. The plasma factor IX levels were < 1% of normal canine levels in affected dogs. A complex deletion mutation at nucleotides 772-777 was found when hepatocyte cDNA from a hemophilia B dog...
متن کاملProfiling of Mutations in the F8 and F9, Causative Genes of Hemophilia A and Hemophilia B
Hemophilia, a common congenital coagulation disorder, is classified as hemophilia A (HA) and hemophilia B (HB), which result from a deficiency or dysfunction of coagulation factor VIII (FVIII) and factor IX (FIX), respectively. HA is known to be caused by heterogeneous mutations of the FVIII gene (F8), such as inversions, substitutions, deletions, insertions, etc. F8 (NM_000132.3) is located on...
متن کاملAlu-SINE exonization: en route to protein-coding function.
The majority of more than one million primate-specific Alu elements map to nonfunctional parts of introns or intergenic sequences. Once integrated, they have the potential to become exapted as functional modules, e.g., as protein-coding domains via alternative splicing. This particular process is also termed exonization and increases protein versatility. Here we investigate 153 human chromosoma...
متن کاملResponse to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation.
Therapy for mild hemophilia A consists of desmopressin acetate (1-deamino[8-D-arginine]-vasopressin; desmopressin; DDAVP), which increases factor VIII and von Willebrand factor antigen (VWF:Ag) levels two-fold to six-fold through endogenous release from endothelial cells [1]. The effect of desmopressin varies between patients, and has been suggested to depend on the hemophilia-causing mutation ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2018
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2017.12.010