Susan L. Ackerman
NationalityAmerican
Alma materCalifornia State University, Chico, University of California, Los Angeles
Known forUNC5C, Harlequin mice
AwardsElection to National Academy of Sciences (2019); Elected to the American Academy of Arts and Sciences (2019) [1]
Scientific career
Fieldsneuroscience, genetics
InstitutionsUniversity of California, San Diego, The Jackson Laboratory, Howard Hughes Medical Institute, Massachusetts General Hospital, Tufts University, University of Maine, Orono

Susan L. Ackerman is an American neuroscientist and geneticist. Her work has highlighted some of the genetic and biochemical factors that are involved in the development of the central nervous system and age-related neurodegeneration.[2] Her research is aimed at helping scientists understand what causes several types of neurodegeneration in mammals. This research, and others' like it, may lead to cures for neurodegenerative diseases. Ackerman is a professor at University of California San Diego. She was formerly a professor at the Jackson Laboratory and the Sackler School of Graduate Biomedical Sciences at Tufts University. She also serves as an adjunct professor at the University of Maine, Orono. Ackerman was an associate geneticist at Massachusetts General Hospital in Boston, Massachusetts.[3]

Education

As an undergraduate, Ackerman attended California State University (Chico),[3] graduating with a Bachelor of Arts degree in Chemistry, and a Bachelor of Arts degree in Biology.[3] Subsequently, Ackerman pursued graduate studies, earning a Doctorate in Biology at the UCLA.[3]

Career and research

Since 2005, Ackerman has served as an investigator at the Howard Hughes Medical Institute.[3] Her work there has centered on the mice that are available through the Jackson Laboratory, known as the Jax mice.[3] These mice have a wide array of genotypic mutations, which lead to different phenotypic expression. Ackerman observes these mice and investigates the genotypic variations that lead to defects in mice. She then investigates the product of these genes and how they affect neurological development and preservation.[3] She was elected a member of the National Academy of Sciences and the American Academy of Arts and Sciences in April 2019.[4]

Unc5c

Ackerman's research has centered largely on the Unc5c gene.[3] The gene product of Unc5c is the Unc5c protein, a neurological netrin receptor.[5] Her research on Unc5c protein revealed that the protein is integral in the development of the corpus callosum, the neurons that form the connection between the two hemispheres of the brain. A mutation in the Unc5c gene, in association with other mutated genes, leads to a degeneration of the corpus callosum. However, if Unc5c is the only gene that is mutated, no noticeable difference in the corpus callosum is present. This is because the Unc5c receptor is only integral in the formation of the corpus callosum in early-born, deep layer neurons. These neurons comprise a small percentage of the corpus callosum relative to the late-born, upper layer neurons.[5]

Harlequin mice

Ackerman's research has also dealt with genetic variations that lead to neurons being more susceptible to oxidative damage. This oxidative damage leads to apoptosis in many neurons. The research centers on the Harlequin mice, who have a proviral insertion in the apoptosis-inducing factor (AIF) gene. The AIF protein is, as the research shows, a free radical scavenger, saving cells from and reducing oxidative damage. The proviral insertion into this gene causes an 80% reduction in expression, causing oxidative damage in neurons as they age.[6]

Other research

Other projects Ackerman has been involved in include the mutation of a U2 snRNA and its connection to neurodegeneration, an editing defective tRNA synthetase that leads to protein misfolding and neurodegeneration, and ribosome stalling by tRNA mutations that leads to neurodegeneration.[7][8][9]

References

  1. "2019 Fellows and International Honorary Members with their affiliations at the time of election". members.amacad.org. Retrieved 2020-03-02.
  2. "About Susan L. Ackerman, Ph.D." The Jackson Laboratory. Retrieved September 10, 2015.
  3. 1 2 3 4 5 6 7 8 "Susan L. Ackerman, PhD". HHMI.org. Retrieved 2015-11-19.
  4. "National Academy of Sciences Elects Members and Foreign Associates; Historic Number of Women Elected to Its Membership - 2019". National Academy of Sciences. April 30, 2019.
  5. 1 2 Srivatsa, Swathi; Parthasarathy, Srinivas; Britanova, Olga; Bormuth, Ingo; Donahoo, Amber-Lee; Ackerman, Susan L.; Richards, Linda J.; Tarabykin, Victor (2014-04-17). "Unc5C and DCC act downstream of Ctip2 and Satb2 and contribute to corpus callosum formation". Nature Communications. 5: 3708. Bibcode:2014NatCo...5.3708S. doi:10.1038/ncomms4708. ISSN 2041-1723. PMC 3997811. PMID 24739528.
  6. Klein, Jeffrey A.; Longo-Guess, Chantal M.; Rossmann, Marlies P.; Seburn, Kevin L.; Hurd, Ronald E.; Frankel, Wayne N.; Bronson, Roderick T.; Ackerman, Susan L. (2002-09-26). "The harlequin mouse mutation downregulates apoptosis-inducing factor". Nature. 419 (6905): 367–374. Bibcode:2002Natur.419..367K. doi:10.1038/nature01034. ISSN 0028-0836. PMID 12353028. S2CID 4418288.
  7. Jia, Yichang; Mu, John C.; Ackerman, Susan L. (2012-01-20). "Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration". Cell. 148 (1–2): 296–308. doi:10.1016/j.cell.2011.11.057. ISSN 1097-4172. PMC 3488875. PMID 22265417.
  8. Lee, Jeong Woong; Beebe, Kirk; Nangle, Leslie A.; Jang, Jaeseon; Longo-Guess, Chantal M.; Cook, Susan A.; Davisson, Muriel T.; Sundberg, John P.; Schimmel, Paul (2006-09-07). "Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration". Nature. 443 (7107): 50–55. Bibcode:2006Natur.443...50L. doi:10.1038/nature05096. ISSN 1476-4687. PMID 16906134. S2CID 4395135.
  9. Ishimura, Ryuta; Nagy, Gabor; Dotu, Ivan; Zhou, Huihao; Yang, Xiang-Lei; Schimmel, Paul; Senju, Satoru; Nishimura, Yasuharu; Chuang, Jeffrey H. (2014-07-25). "RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration". Science. 345 (6195): 455–459. doi:10.1126/science.1249749. ISSN 1095-9203. PMC 4281038. PMID 25061210.
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