Susan  Mackem, M.D., Ph.D.

Susan Mackem, M.D., Ph.D.

  • Center for Cancer Research
  • National Cancer Institute


Dr. Mackem studies limb development as a model for learning how signaling networks orchestrate the formation of a complex 3-dimensional structure, using combined genetic, genomic, and biochemical approaches to study transcription factors and signaling cascades that regulate the formation and pattern of digits and unravel the regulatory hierarchy between early patterning and digit morphogenesis. A major focus of the lab has been the role of Sonic Hedgehog and its signaling targets, including the Gli3 hedgehog-effector and 5’HoxD homeobox gene targets that cooperate to regulate the late morphogenetic realization of early patterning cues. Dr. Mackem also serves as an attending anatomic pathologist for the Laboratory of Pathology and NIH Clinical Center.

Areas of Expertise

Hedgehog Signaling
Homeobox Protein Function


Selected Key Publications

The formation of the thumb requires direct modulation of Gli3 transcription by Hoxa13

Bastida MF, Pérez-Gómez R, Trofka A, Zhu J, Rada-Iglesias A, Sheth R, Stadler HS, Mackem S, Ros MA.
Proc Natl Acad Sci U S A. 117(2): 1090-96, 2020. [ Journal Article ]

An interdigit signalling centre instructs coordinate phalanx-joint formation governed by 5'Hoxd-Gli3 antagonism

Huang BL, Trofka A, Furusawa A, Norrie JL, Rabinowitz AH, Vokes SA, Mark Taketo M, Zakany J, Mackem S.
Nat Commun. 7: 12903, 2016. [ Journal Article ]

Putative oncogene Brachyury (T) is essential to specify cell fate but dispensable for notochord progenitor proliferation and EMT

Zhu J, Kwan KM, Mackem S.
Proc. Natl. Acad. Sci. U.S.A. 113: 3820-5, 2016. [ Journal Article ]

An integrative approach to understanding bird origins

Xu X, Zhou Z, Dudley R, Mackem S, Chuong CM, Erickson GM, Varricchio DJ.
Science. 346(6215): 1253293, 2014. [ Journal Article ]

Uncoupling Sonic hedgehog control of pattern and expansion of the developing limb bud

Zhu J, Nakamura E, Nguyen MT, Bao X, Akiyama H, Mackem S.
Dev. Cell. 14: 624-32, 2008. [ Journal Article ]

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