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Characterization of a novel KRAS mutation identified in Noonan syndrome by Md. Abdur Razzaque; Yuta Komoike; Tsutomu Nishizawa; Kei Inai; Michiko Furutani; Toru Higashinakagawa; Rumiko Matsuoka is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Characterization of a novel KRAS mutation identified in Noonan syndrome about?
## Abstract Noonan syndrome (NS) is the most common non‐chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen‐activated protein kinase (MAPK) signaling pathways cause about 70% of NS cases with a __KRAS__ mutation present in about 2%. In a cohort of 65 clinically confirmed NS patients of Japanese origin, we screened for mutations in the RAS genes by direct sequencing. We found a novel mutation in __KRAS__ with an amino acid substitution of asparagine to serine at codon 116 (N116S). We analyzed the biological activity of this mutant by ectopic expression of wild‐type or mutant __KRAS__. NS‐associated __KRAS__ mutation resulted in Erk activation and active Ras–GTP levels, and exhibited mild cell proliferation. In addition, __kras__‐targeted morpholino knocked‐down zebrafish embryos caused heart and craniofacial malformations, while the expression of mutated kras resulted in maldevelopment of the heart. Our findings implicate that N116S change in __KRAS__ is a hyperactive mutation which is a causative agen
Who reads Characterization of a novel KRAS mutation identified in Noonan syndrome?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Md. Abdur Razzaque; Yuta Komoike; Tsutomu Nishizawa; Kei Inai; Michiko Furutani; Toru Higashinakagawa; Rumiko Matsuoka
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)
- Published
- 2012
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)