Quantification of NF1 transcripts reveals novel highly expressed splice variants

FEBS Letters

Vandenbroucke, Ina¹  Vandesompele, Jo¹  Messiaen, Ludwine¹  De Paepe, Anne¹ 

[1] Centre for Medical Genetics, Ghent University Hospital-0K5, De Pintelaan 185, 9000 Ghent, Belgium

关键词: Neurofibromatosis type 1;    Neurofibromin;    Alternative splicing;    Real-time polymerase chain reaction;    Quantitative polymerase chain reaction;    NF1;    neurofibromatosis type 1;    GAP;    GTPase-activating protein;   

DOI  :  10.1016/S0014-5793(02)02887-9

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Previously, we have shown that the NF1 gene gives rise to multiple novel splice variants. In the present study, nine NF1 variants were quantified by real-time PCR in various human tissues. Some of these variants were expressed at low to moderate low levels and possible implications of these findings are discussed. Interestingly, two variants (NF1-ΔE4b and NF1-ΔE43) were shown to be highly expressed in specific tissues. NF1-ΔE43 lacks a nuclear targeting sequence and might be functionally different from full-length NF1. These novel NF1 splice variants might expand our understanding of the role of neurofibromin.

【 授权许可】

Unknown