I am a Group Leader at Mater Research Institute, heading the Developmental Molecular Genetics Lab. My team investigates the dynamic interplay between mobile DNA sequences and mammalian genomes, with a primary focus on the retrotransposon Long Interspersed Element 1 (L1). L1 sequences are “selfish” genetic entities, which must insert new copies (retrotranspose) in the genomes of cells that will contribute to the next generation. This evolutionary drive sets up a perpetual conflict between L1 propagation and genome stability, which plays out in pluripotent embryonic cells as well as in cells of the developing germline. My ongoing research is focused on elucidating the developmental timing of heritable L1 retrotransposition, and understanding how L1 activity is controlled in these critical niches. I am interested in the capacity of L1 retrotransposition events to generate genetic diversity and drive genome evolution, as well as their contribution to somatic and germline genetic mosaicism and their potential to cause human genetic disease and reproductive dysfunction.
Journal Article: Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells
Gerdes, Patricia, Lim, Sue Mei, Ewing, Adam D., Larcombe, Michael R., Chan, Dorothy, Sanchez-Luque, Francisco J., Walker, Lucinda, Carleton, Alexander L., James, Cini, Knaupp, Anja S., Carreira, Patricia E., Nefzger, Christian M., Lister, Ryan, Richardson, Sandra R., Polo, Jose M. and Faulkner, Geoffrey J. (2022). Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells. Nature Communications, 13 (1) 7470, 1-18. doi: 10.1038/s41467-022-35180-x
Journal Article: Somatic retrotransposition in the developing rhesus macaque brain
Billon, Victor, Sanchez-Luque, Francisco J, Rasmussen, Jay, Bodea, Gabriela O, Gerhardt, Daniel J, Gerdes, Patricia, Cheetham, Seth W, Schauer, Stephanie N, Ajjikuttira, Prabha, Meyer, Thomas J, Layman, Cora E, Nevonen, Kimberly A, Jansz, Natasha, Garcia-Perez, Jose L, Richardson, Sandra R, Ewing, Adam D, Carbone, Lucia and Faulkner, Geoffrey J (2022). Somatic retrotransposition in the developing rhesus macaque brain. Genome Research, 32 (7), gr.276451.121-1314. doi: 10.1101/gr.276451.121
Journal Article: Heritable L1 retrotransposition in the mouse primordial germline and early embryo
Richardson, Sandra R., Gerdes, Patricia, Gerhardt, Daniel J., Sanchez-Luque, Francisco J., Bodea, Gabriela-Oana, Muñoz-Lopez, Martin, Jesuadian, J. Samuel, Kempen, Marie-Jeanne H. C., Carreira, Patricia E., Jeddeloh, Jeffrey A., Garcia-Perez, Jose L., Kazazian Jr., Haig H., Ewing, Adam D. and Faulkner, Geoffrey J. (2017). Heritable L1 retrotransposition in the mouse primordial germline and early embryo. Genome Research, 27 (8), 1395-1405. doi: 10.1101/gr.219022.116
Mobile DNA activity in the mammalian primordial germline
(2021–2024) ARC Discovery Projects
The invisible impact of mobile DNA activity during human development
(2020–2024) NHMRC Investigator Grants
Visualising genetic mosaicism during development
(2020–2023) ARC Discovery Projects
Jumping Genes in Mammalian Development
Doctor Philosophy
Mobile DNA Activity in the Mammalian Primordial Germline
Doctor Philosophy
Applying long-read sequencing technologies to cancer genomes
Doctor Philosophy
Heritable L1 retrotransposition in the mouse primordial germline and early embryo
Richardson, Sandra R., Gerdes, Patricia, Gerhardt, Daniel J., Sanchez-Luque, Francisco J., Bodea, Gabriela-Oana, Muñoz-Lopez, Martin, Jesuadian, J. Samuel, Kempen, Marie-Jeanne H. C., Carreira, Patricia E., Jeddeloh, Jeffrey A., Garcia-Perez, Jose L., Kazazian Jr., Haig H., Ewing, Adam D. and Faulkner, Geoffrey J. (2017). Heritable L1 retrotransposition in the mouse primordial germline and early embryo. Genome Research, 27 (8), 1395-1405. doi: 10.1101/gr.219022.116
Analysis of somatic LINE-1 insertions in neurons
Sanchez-Luque, Francisco J., Richardson, Sandra R. and Faulkner, Geoffrey J. (2017). Analysis of somatic LINE-1 insertions in neurons. Genomic mosaicism in neurons and other cell types. (pp. 219-251) edited by José María Frade and Fred H. Gage. New York, United States: Humana Press. doi: 10.1007/978-1-4939-7280-7_12
LINE-1 cultured cell retrotransposition assay
Kopera, Huira C., Larson, Peter A., Moldovan, John B., Richardson, Sandra R., Liu, Ying and Moran, John V. (2016). LINE-1 cultured cell retrotransposition assay. Transposons and retrotransposons: methods and protocols. (pp. 139-156) edited by Jose L. Garcia-Pérez. New York, NY, United States: Humana Press . doi: 10.1007/978-1-4939-3372-3_10
Sanchez-Luque, Francisco J., Richardson, Sandra R. and Faulkner, Geoffrey J. (2016). Retrotransposon capture sequencing (RC-Seq): a targeted, high-throughput approach to resolve somatic L1 retrotransposition in humans. Transposons and retrotranspons: methods and protocols. (pp. 47-77) edited by Jose L. Garcia-Pérez. New York, NY, United States: Springer. doi: 10.1007/978-1-4939-3372-3_4
Gerdes, Patricia, Lim, Sue Mei, Ewing, Adam D., Larcombe, Michael R., Chan, Dorothy, Sanchez-Luque, Francisco J., Walker, Lucinda, Carleton, Alexander L., James, Cini, Knaupp, Anja S., Carreira, Patricia E., Nefzger, Christian M., Lister, Ryan, Richardson, Sandra R., Polo, Jose M. and Faulkner, Geoffrey J. (2022). Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells. Nature Communications, 13 (1) 7470, 1-18. doi: 10.1038/s41467-022-35180-x
Somatic retrotransposition in the developing rhesus macaque brain
Billon, Victor, Sanchez-Luque, Francisco J, Rasmussen, Jay, Bodea, Gabriela O, Gerhardt, Daniel J, Gerdes, Patricia, Cheetham, Seth W, Schauer, Stephanie N, Ajjikuttira, Prabha, Meyer, Thomas J, Layman, Cora E, Nevonen, Kimberly A, Jansz, Natasha, Garcia-Perez, Jose L, Richardson, Sandra R, Ewing, Adam D, Carbone, Lucia and Faulkner, Geoffrey J (2022). Somatic retrotransposition in the developing rhesus macaque brain. Genome Research, 32 (7), gr.276451.121-1314. doi: 10.1101/gr.276451.121
Nanopore sequencing enables comprehensive transposable element epigenomic profiling
Ewing, Adam D., Smits, Nathan, Sanchez-Luque, Francisco J., Faivre, Jamila, Brennan, Paul M., Richardson, Sandra R., Cheetham, Seth W. and Faulkner, Geoffrey J. (2020). Nanopore sequencing enables comprehensive transposable element epigenomic profiling. Molecular Cell, 80 (5), 915-928.e5. doi: 10.1016/j.molcel.2020.10.024
LINE-1 Evasion of epigenetic repression in humans
Sanchez-Luque, Francisco J., Kempen, Marie-Jeanne H.C., Gerdes, Patricia, Vargas-Landin, Dulce B., Richardson, Sandra R., Troskie, Robin-Lee, Jesuadian, J. Samuel, Cheetham, Seth W., Carreira, Patricia E., Salvador-Palomeque, Carmen, García-Cañadas, Marta, Muñoz-Lopez, Martin, Sanchez, Laura, Lundberg, Mischa, Macia, Angela, Heras, Sara R., Brennan, Paul M., Lister, Ryan, Garcia-Perez, Jose L., Ewing, Adam D. and Faulkner, Geoffrey J. (2019). LINE-1 Evasion of epigenetic repression in humans. Molecular Cell, 75 (3), 590-604.e12. doi: 10.1016/j.molcel.2019.05.024
Dynamic methylation of an L1 transduction family during reprogramming and neurodifferentiation
Salvador-Palomeque, Carmen, Sanchez-Luque, Francisco J., Fortuna, Patrick R. J., Ewing, Adam D., Wolvetang, Ernst J., Richardson, Sandra R. and Faulkner, Geoffrey J. (2019). Dynamic methylation of an L1 transduction family during reprogramming and neurodifferentiation. Molecular and Cellular Biology, 39 (7) e00499-18, 1-19. doi: 10.1128/mcb.00499-18
Richardson, Sandra R. and Faulkner, Geoffrey J. (2018). Heritable L1 retrotransposition events during development: understanding their origins: examination of heritable, endogenous L1 retrotransposition in mice opens up exciting new questions and research directions. BioEssays, 40 (6) 1700189, e1700189. doi: 10.1002/bies.201700189
L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis
Schauer, Stephanie N., Carreira, Patricia E., Shukla, Ruchi, Gerhardt, Daniel J., Gerdes, Patricia, Sanchez-Luque, Francisco J., Nicoli, Paola, Kindlova, Michaela, Ghisletti, Serena, Santos, Alexandre Dos, Rapoud, Delphine, Samuel, Didier, Faivre, Jamila, Ewing, Adam D., Richardson, Sandra R. and Faulkner, Geoffrey J. (2018). L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis. Genome Research, 28 (5), 639-653. doi: 10.1101/gr.226993.117
L1 retrotransposon heterogeneity in ovarian tumor cell evolution
Nguyen, Thu H. M., Carreira, Patricia E., Sanchez-Luque, Francisco J., Schauer, Stephanie N., Fagg, Allister C., Richardson, Sandra R., Davies, Claire M., Jesuadian, J. Samuel, Kempen, Marie-Jeanne H. C., Troskie, Robin-Lee, James, Cini, Beaven, Elizabeth A., Wallis, Tristan P., Coward, Jermaine I. G., Chetty, Naven P., Crandon, Alexander J., Venter, Deon J., Armes, Jane E., Perrin, Lewis C., Hooper, John D., Ewing, Adam D., Upton, Kyle R. and Faulkner, Geoffrey J. (2018). L1 retrotransposon heterogeneity in ovarian tumor cell evolution. Cell Reports, 23 (13), 3730-3740. doi: 10.1016/j.celrep.2018.05.090
Heritable L1 retrotransposition in the mouse primordial germline and early embryo
Richardson, Sandra R., Gerdes, Patricia, Gerhardt, Daniel J., Sanchez-Luque, Francisco J., Bodea, Gabriela-Oana, Muñoz-Lopez, Martin, Jesuadian, J. Samuel, Kempen, Marie-Jeanne H. C., Carreira, Patricia E., Jeddeloh, Jeffrey A., Garcia-Perez, Jose L., Kazazian Jr., Haig H., Ewing, Adam D. and Faulkner, Geoffrey J. (2017). Heritable L1 retrotransposition in the mouse primordial germline and early embryo. Genome Research, 27 (8), 1395-1405. doi: 10.1101/gr.219022.116
TET enzymes: double agents in the transposable element-host genome conflict
Gerdes, Patricia, Richardson, Sandra R. and Faulkner, Geoffrey J. (2016). TET enzymes: double agents in the transposable element-host genome conflict. Genome Biology, 17 (1) 259. doi: 10.1186/s13059-016-1124-8
Carreira, Patricia E., Ewing, Adam D., Li, Guibo, Schauer, Stephanie N., Upton, Kyle R., Fagg, Allister C., Morell, Santiago, Kindlova, Michaela, Gerdes, Patricia, Richardson, Sandra R., Li, Bo, Gerhardt, Daniel J., Wang, Jun, Brennan, Paul M. and Faulkner, Geoffrey J. (2016). Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme. Mobile DNA, 7 (1) 21, 1-14. doi: 10.1186/s13100-016-0076-6
Transposable elements in the mammalian embryo: pioneers surviving through stealth and service
Gerdes, Patricia, Richardson, Sandra R., Mager, Dixie L. and Faulkner, Geoffrey J. (2016). Transposable elements in the mammalian embryo: pioneers surviving through stealth and service. Genome Biology, 17 (1) 100. doi: 10.1186/s13059-016-0965-5
Ubiquitous L1 mosaicism in hippocampal neurons
Upton, Kyle R., Gerhardt, Daniel J., Jesuadian, J. Samuel, Richardson, Sandra R., Sanchez-Luque, Francisco J., Bodea, Gabriela O., Ewing, Adam D., Salvador-Palomeque, Carmen, van der Knaap, Mario S., Brennan, Paul M., Vanderver, Adeline and Faulkner, Geoffrey J. (2015). Ubiquitous L1 mosaicism in hippocampal neurons. Cell, 161 (2), 228-239. doi: 10.1016/j.cell.2015.03.026
The influence of LINE-1 and SINE retrotransposons on mammalian genomes
Richardson, Sandra R., Doucet, Aurélien J., Kopera, Huira C., Moldovan, John B., Garcia-Perez, José Luis and Moran, John V. (2015). The influence of LINE-1 and SINE retrotransposons on mammalian genomes. Microbiology Spectrum, 3 (2) MDNA3-0061-2014. doi: 10.1128/microbiolspec.MDNA3-0061-2014
L1 retrotransposons and somatic mosaicism in the brain
Richardson, Sandra R., Morell, Santiago and Faulkner, Geoffrey J. (2014). L1 retrotransposons and somatic mosaicism in the brain. Annual Review of Genetics, 48, 1-27. doi: 10.1146/annurev-genet-120213-092412
APOBEC3A deaminates transiently exposed single-strand DNA during LINE-1 retrotransposition
Richardson, Sandra R., Narvaiza, Iñigo, Planegger, Randy A., Weitzman, Matthew D. and Moran, John V. (2014). APOBEC3A deaminates transiently exposed single-strand DNA during LINE-1 retrotransposition. eLife, 2014 (3) e02008. doi: 10.7554/eLife.02008
Richardson, Sandra R., Salvador-Palomeque, Carmen and Faulkner, Geoffrey J. (2014). Diversity through duplication: Whole-genome sequencing reveals novel gene retrocopies in the human population. BioEssays, 36 (5), 475-481. doi: 10.1002/bies.201300181
L1 retrotransposons, cancer stem cells and oncogenesis
Carreira, Patricia E., Richardson, Sandra R. and Faulkner, Geoffrey J. (2014). L1 retrotransposons, cancer stem cells and oncogenesis. FEBS Journal, 281 (1), 63-73. doi: 10.1111/febs.12601
Mobile DNA activity in the mammalian primordial germline
(2021–2024) ARC Discovery Projects
The invisible impact of mobile DNA activity during human development
(2020–2024) NHMRC Investigator Grants
Visualising genetic mosaicism during development
(2020–2023) ARC Discovery Projects
Jumping Genes in Mammalian Development
Doctor Philosophy — Principal Advisor
Other advisors:
Mobile DNA Activity in the Mammalian Primordial Germline
Doctor Philosophy — Principal Advisor
Other advisors:
Applying long-read sequencing technologies to cancer genomes
Doctor Philosophy — Associate Advisor
Other advisors:
Visualising genetic mosaicism during development
Doctor Philosophy — Associate Advisor
Other advisors:
Mobilisation and Regulation of L1 Retrotransposons in Mammalian Development
(2021) Doctor Philosophy — Associate Advisor
Other advisors:
L1 is dynamic during neurogenesis
(2019) Doctor Philosophy — Associate Advisor
Other advisors: