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Insights into NF1 from Evolution

  • Britta Bartelt-Kirbach
  • Dieter Kaufmann
Chapter

Abstract

The gene product of NF1, neurofibromin, is a very large protein. The known functional domains (GRD, Sec14 and PH-like domain) account for only about 20 % of the size. Comparison of human neurofibromin with its homologues from various species led to the detection of the presently known domains and maybe will also help to identify further functional regions of this protein. Evolutionary comparisons also revealed that NF1 is a very old gene with its origin in the fungi/metazoa ancestor, which is approximately 1,200 million years old. A strong evolutionary constraint has to lie on neurofibromin function as the gene structure and exon organisation are conserved even between human and ray-finned fish (Takifugu rupripes) and almost no change is observed in primate evolution. In addition to the coding sequence also, the NF1 genomic region exhibits very little change during primate evolution. In contrast, the region of the three genes inserted in an NF1 intron, OMG, EVI2A and EVI2B, seems to be more variable.

Keywords

Neurospora Crassa Oligodendrocyte Myelin Glycoprotein Ensembl Database Ecotropic Viral Integration Site Isochore Structure 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.Institute of Anatomy and Cell BiologyUniversity of UlmUlmGermany
  2. 2.Institute of Human GeneticsUniversity of UlmUlmGermany

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