AABA 2024 – Somatic Mutation and Adaptive Flexibility: Neural Plasticity and the NF1 Gene in Hominin Evolution and Beyond

For now, the Cited References and Image Credits. I’ll post the full document after the conference.

Cited References:

1.  Riccardi VM (2015) NF1 and the Praxitype. JSM Genet Genomics 2(1): 1006.

2.  Alveshere, A.J. & Riccardi, V.M. (2020). The Human NF1 Locus: A unique hominin genotype with potential evolutionary significance. Paper presented at the 89th annual conference of the American Association of Physical Anthropologists, Los Angeles, CA (virtual due to pandemic).

3.  Riccardi, V.M. (1992).  Neurofibromatosis: Phenotype, Natural History and Pathogenesis. 2nd edition. VM Riccardi.  Baltimore: Johns Hopkins University Press.

4.  Alveshere, Andrea, Lynne Kelly, and Vincent Riccardi (2022).  Art, Orality, and Migration: The roles of NF1, mnemonics, and somatic adaptation in the hominin biocultural toolkit.  Paper presented at the at the 91st annual conference of the American Association of Biological Anthropologists, Denver, CO.

5.  Wang, Su, Jan M. Friedman, Per Suppa, Ralph Buchert and Victor‑Felix Mautner (2022). White matter is increased in the brains of adults with neurofibromatosis 1. Orphanet Journal of Rare Diseases 17:115 https://doi.org/10.1186/s13023-022-02273-1

6.  Miller, A. H., & Halloran, M. C. (2022). Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment. Disease models & mechanisms, 15(8), dmm049422. https://doi.org/10.1242/dmm.049422

7. Xu, G. F., Lin, B., Tanaka, K., Dunn, D., Wood, D., Gesteland, R., White, R., Weiss, R., & Tamanoi, F. (1990). The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 63(4), 835–841. https://doi.org/10.1016/0092-8674(90)90149-9

8.  Bloomfield et al. (2015). Bloomfield, G. et al. (2015). Neurofibromin controls macropinocytosis and phagocytosis in Dictyostelium. eLife, 4, e04940.

9.  Walker, J. A., & Bernards, A. (2014). A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth. Rare diseases (Austin, Tex.), 2, e28341. https://doi.org/10.4161/rdis.28341

10.  Sousounis, K., Ogura, A., & Tsonis, P. A. (2013). Transcriptome analysis of Nautilus and pygmy squid developing eye provides insights in lens and eye evolution. PloS one, 8(10), e78054. https://doi.org/10.1371/journal.pone.0078054

11.  White, K. A. et al. (2018).  A porcine model of neurofibromatosis type 1 that mimics the human disease. JCI insight 3, https://doi.org/10.1172/jci.insight.120402

12.  Shin, J., Padmanabhan, A., de Groh, E. D., Lee, J. S., Haidar, S., Dahlberg, S., Guo, F., He, S., Wolman, M. A., Granato, M., Lawson, N. D., Wolfe, S. A., Kim, S. H., Solnica-Krezel, L., Kanki, J. P., Ligon, K. L., Epstein, J. A., & Look, A. T. (2012). Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development. Disease models & mechanisms, 5(6), 881–894. https://doi.org/10.1242/dmm.009779

13. Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ (2005). The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol. 15:1961–7.

14.  Osum, S. H., Watson, A. L., & Largaespada, D. A. (2021). Spontaneous and Engineered Large Animal Models of Neurofibromatosis Type 1. International journal of molecular sciences, 22(4), 1954. https://doi.org/10.3390/ijms22041954

15.  Inagaki, H., Ohye, T., Kogo, H., Yamada, K., Kowa, H., Shaikh, T. H., Emanuel, B. S., & Kurahashi, H. (2005). Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. Human mutation, 26(4), 332–342. https://doi.org/10.1002/humu.20228

16.  Riccardi VM (2020). Pathology hiding in plain sight: The NF1 plasma membrane. Cancer Stud Mol Med Open J.; 6(1): e1-e3. doi: 10.17140/CSMMOJ-6-e008

17.  Matschiner, M., Barth, J.M.I., Tørresen, O.K. et al. (2022). Supergene origin and maintenance in Atlantic cod. Nat Ecol Evol 6, 469–481 https://doi.org/10.1038/s41559-022-01661-x

18.  Wagner GP (2014). Homology, Genes and Evolutionary Innovation. Princeton, NJ, USA: Princeton University Press

19.  Pacot, L., et al. (2019). One NF1 Mutation may Conceal Another. Genes 10(9), 633. https://doi.org/10.3390/genes10090633

20.  Vandenbroucke Ina, Vandesompele Jo, De Paepe Anne and Messiaen Ludwine (2002). Quantification of NF1 transcripts reveals novel highly expressed splice variants, FEBS Letters, 522, doi: 10.1016/S0014-5793(02)02887-9

21.  Bergoug, M., Doudeau, M., Godin, F., Mosrin, C., Vallée, B., & Bénédetti, H. (2020). Neurofibromin Structure, Functions and Regulation. Cells, 9(11), 2365. https://doi.org/10.3390/cells9112365

22.  Báez-Flores, J., Rodríguez-Martín, M. & Lacal, J. (2023)  The therapeutic potential of neurofibromin signaling pathways and binding partners. Commun Biol 6, 436. https://doi.org/10.1038/s42003-023-04815-0

23.  Hiatt, K. K., Ingram, D. A., Zhang, Y., Bollag, G., & Clapp, D. W. (2001). Neurofibromin GTPase-activating protein-related domains restore normal growth in Nf1-/- cells. The Journal of biological chemistry276(10), 7240–7245. https://doi.org/10.1074/jbc.M009202200

24. Barack DL, Ludwig VU, Parodi F, Ahmed N, Brannon EM, Ramakrishnan A, Platt ML. (2024) Attention deficits linked with proclivity to explore while foraging. Proc. R. Soc. B 291: 20222584. https://doi.org/10.1098/rspb.2022.2584

25.  Mazuelas, Helena et al. (2024)  Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas JCI Insight. 2024;9(3):e168826.

26.  Storey, C. L., Williams, R. S. B., Fisher, P. R., & Annesley, S. J. (2022). Dictyostelium discoideum: A Model System for Neurological Disorders. Cells 11(3), 463. https://doi.org/10.3390/cells11030463

27.  Haver HN and Scaglione KM (2021) Dictyostelium discoideum as a Model for Investigating Neurodegenerative Diseases. Front. Cell. Neurosci. 15:759532. doi: 10.3389/fncel.2021.759532

28.  Majic P, Erten EY, Payne JL. (2022) The Adaptive Potential of Nonheritable Somatic Mutations. Am Nat. 200(6):755-772. doi: 10.1086/721766. Epub 2022 Oct 7. PMID: 36409982.

Image Credits

Humans:  James Newton Films, CC BY-SA 3.0 <https://creativecommons.org/licenses/by-sa/3.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Neil_and_Adam_Pearson_(My_Amazing_Twin_%E2%80%93_Trailer_1).png

Yeast:  Mogana Das Murtey and Patchamuthu Ramasamy, CC BY 3.0 <https://creativecommons.org/licenses/by/3.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Saccharomyces_cerevisiae_SEM.jpg

Amoeba:  Usman Bashir, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons;  https://commons.wikimedia.org/wiki/File:Dictyostelium_discoideum_02.jpg

Fruit Fly:  Alexis, CC BY 4.0 <https://creativecommons.org/licenses/by/4.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Drosophila_melanogaster_53362116.jpg

Nautilus:  Hans Hillewaert, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Nautilus_pompilius_photo.jpg

Zebrafish:  Pogrebnoj-Alexandroff, CC BY-SA 3.0 <https://creativecommons.org/licenses/by-sa/3.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Danio_rerio.JPG

Mouse:  George Shuklin, CC BY-SA 1.0 <https://creativecommons.org/licenses/by-sa/1.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:%D0%9C%D1%8B%D1%88%D1%8C_2.jpg

Rat:  US gov, Public domain, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Albino_Rat.jpg

Dog:  Ken Billington, CC BY-SA 3.0 <https://creativecommons.org/licenses/by-sa/3.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:Dog_(Canis_lupus_familiaris)_(1).jpg

Pig:  Minipigs, CC BY-SA 3.0 <https://creativecommons.org/licenses/by-sa/3.0>, via Wikimedia Commons; https://commons.wikimedia.org/wiki/File:G%C3%B6ttingen_Minipig.jpg

Chimps:  Blackseablue, CC BY 3.0 <https://creativecommons.org/licenses/by/3.0>, via Wikimedia Commons, https://commons.wikimedia.org/wiki/File:Mom_I_Want_To_Eat_Too_(74539299).jpeg