Biography

Sandra Richardson Dr. Richardson has been a Research Officer in the Genome Plasticity and Disease group at Mater Research InstituteUniversity of Queensland in Brisbane, Australia since September 2013, where her primary research focus is the activity of LINE-1 retrotransposons in the mammalian germline and early embryo. She completed her PhD in July 2013 in the laboratory of Professor John V. Moran in the Department of Human Genetics at the University of Michigan in Ann Arbor, USA. She obtained a Bachelor of Science in 2005 from the department of Microbiology and Molecular Genetics at Michigan State University, East Lansing, USA.read more

Dr. Richardson is interested in the dynamic relationship between transposable elements (TEs) and mammalian genomes. TE-mediated mutagenesis is an endogenous source of genetic diversity both within an individual (genetic mosaicism), and between individuals. On an evolutionary time scale, TE activity, along with other endogenous and exogenous mutagenic forces, provides the “raw material” for natural selection and the evoultion of gene function and regulation. However, at the level of the individual organism, TE mutagenesis of critical genes and regulatory regions can cause complete unviability, or result in genetic disease. Thus, mammalian genomes have evolved numerous defense pathways to restrict TE mutagenesis.

Dr. Richardson’s PhD and postdoctoral work has centered on the activity and regulation of the retrotransposon LINE-1, which is the only autonomous TE presently active in human genomes. LINE-1 regulation occurs at many levels, including epigenetic repression and small RNA-based defence pathways.  The focus of her PhD thesis was regulation of LINE-1 by the APOBEC3 (A3) family of restriction factors. The human A3 family comprises seven members which have activity against exogenous retroviruses as well as endogenous TEs. APOBEC3A is the strongest inhibitor of LINE-1 activity, and the main finding of Dr. Richardson’s PhD thesis was to uncover the molecular mechanism of this restriction.

Dr. Richardson’s focus on LINE-1 regulation during her PhD led to her current research interest: in the face of numerous restriction mechanisms, at what point during mammalian development, and how frequently, do new heritable LINE-1 insertions occur? Her recent work in the Faulkner laboratory has established that a new endogenous LINE-1 insertion occurs in at least one in 8 mouse genomes, and that these insertions primarily arise in the pluripotent cells of the early embryo, prior to germline specification. However, she also uncovered a signficiant proportion of LINE-1 retrotransposition events occurring in early primordial germ cells, giving rise to germline-restricted genetic mosaicism. Notably, the early primordial germline represents a previously unappreciated developmental stage for the generation of heritable LINE-1 insertions.


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Publications:

2020

Ewing, Adam D; Smits, Nathan; Sanchez-Luque, Francisco J; Faivre, Jamila; Brennan, Paul M; Richardson, Sandra R; Cheetham, Seth W; Faulkner, Geoffrey J

Nanopore Sequencing Enables Comprehensive Transposable Element Epigenomic Profiling (Journal Article)

Molecular Cell, 2020, ISSN: 1097-2765.

(Abstract | Links | BibTeX | Altmetric)

2019

Salvador-Palomeque, Carmen; Sanchez-Luque, Francisco J; Fortuna, Patrick R J; Ewing, Adam D; Wolvetang, Ernst J; Richardson, Sandra R; Faulkner, Geoffrey J

Dynamic Methylation of an L1 Transduction Family during Reprogramming and Neurodifferentiation (Journal Article)

Mol Cell Biol, 39 (7), 2019, ISSN: 0270-7306.

(Abstract | Links | BibTeX | Altmetric)

Sanchez-Luque, Francisco J; Kempen, Marie-Jeanne H C; Gerdes, Patricia; Vargas-Landin, Dulce B; Richardson, Sandra R; Troskie, Robin-Lee; Jesuadian, Samuel J; 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; Faulkner, Geoffrey J

LINE-1 Evasion of Epigenetic Repression in Humans (Journal Article)

Molecular Cell, 0 (0), 2019, ISSN: 1097-2765.

(Abstract | Links | BibTeX | Altmetric)

2018

Richardson, Sandra R; Faulkner, Geoffrey J

Heritable L1 Retrotransposition Events During Development: Understanding Their Origins (Journal Article)

BioEssays, 40 (6), pp. 1700189, 2018, ISSN: 1521-1878.

(Abstract | Links | BibTeX | Altmetric)

Nguyen, Thu H M; Carreira, Patricia E; Sanchez-Luque, Francisco J; Schauer, Stephanie N; Fagg, Allister C; Richardson, Sandra R; Davies, Claire M; Jesuadian, Samuel J; 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; Faulkner, Geoffrey J

L1 Retrotransposon Heterogeneity in Ovarian Tumor Cell Evolution (Journal Article)

Cell Reports, 23 (13), pp. 3730–3740, 2018, ISSN: 2211-1247.

(Abstract | Links | BibTeX | Altmetric)

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; Faulkner, Geoffrey J

L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis (Journal Article)

Genome Research, 2018, ISSN: 1088-9051, 1549-5469.

(Abstract | Links | BibTeX | Altmetric)

2017

Richardson, Sandra R; Gerdes, Patricia; Gerhardt, Daniel J; Sanchez-Luque, Francisco J; Bodea, Gabriela-Oana; ~n, Martin Mu; Jesuadian, Samuel J; Kempen, Marie-Jeanne H C; Carreira, Patricia E; Jeddeloh, Jeffrey A; Garcia-Perez, Jose L; Jr, Haig Kazazian H; Ewing, Adam D; Faulkner, Geoffrey J

Heritable L1 retrotransposition in the mouse primordial germline and early embryo (Journal Article)

Genome Res., 27 (8), pp. 1395–1405, 2017.

(Abstract | Links | BibTeX)

Sanchez-Luque, Francisco J; Richardson, Sandra R; Faulkner, Geoffrey J

Analysis of Somatic LINE-1 Insertions in Neurons (Incollection)

Genomic Mosaicism in Neurons and Other Cell Types, pp. 219–251, Humana Press, New York, NY, 2017, ISBN: 978-1-4939-7279-1 978-1-4939-7280-7, (DOI: 10.1007/978-1-4939-7280-7_12).

(Abstract | Links | BibTeX)

2016

Gerdes, Patricia; Richardson, Sandra R; Mager, Dixie L; Faulkner, Geoffrey J

Transposable elements in the mammalian embryo: pioneers surviving through stealth and service (Journal Article)

Genome Biol., 17 , pp. 100, 2016.

(Abstract | Links | BibTeX)

Gerdes, Patricia; Richardson, Sandra R; Faulkner, Geoffrey J

TET enzymes: double agents in the transposable element-host genome conflict (Journal Article)

Genome Biol., 17 (1), pp. 259, 2016.

(Abstract | Links | BibTeX)

Sanchez-Luque, Francisco J; Richardson, Sandra R; Faulkner, Geoffrey J

Retrotransposon Capture Sequencing (RC-Seq): A Targeted, High-Throughput Approach to Resolve Somatic L1 Retrotransposition in Humans (Journal Article)

Methods Mol. Biol., 1400 , pp. 47–77, 2016.

(Abstract | Links | BibTeX)

Kopera, Huira C; Larson, Peter A; Moldovan, John B; Richardson, Sandra R; Liu, Ying; Moran, John V

LINE-1 Cultured Cell Retrotransposition Assay (Journal Article)

Methods in Molecular Biology (Clifton, N.J.), 1400 , pp. 139–156, 2016, ISSN: 1940-6029.

(Abstract | Links | BibTeX | Altmetric)

Sanchez-Luque, Francisco J; Richardson, Sandra R; Faulkner, Geoffrey J

Retrotransposon Capture Sequencing (RC-Seq): A Targeted, High-Throughput Approach to Resolve Somatic L1 Retrotransposition in Humans (Journal Article)

Methods in Molecular Biology (Clifton, N.J.), 1400 , pp. 47–77, 2016, ISSN: 1940-6029.

(Abstract | Links | BibTeX | Altmetric)

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; Faulkner, Geoffrey J

Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme (Journal Article)

Mob. DNA, 7 (1), pp. 21, 2016.

(Abstract | Links | BibTeX)

2015

Upton, Kyle R; Gerhardt, Daniel J; Jesuadian, Samuel J; Richardson, Sandra R; Sánchez-Luque, Francisco J; Bodea, Gabriela O; Ewing, Adam D; Salvador-Palomeque, Carmen; van der Knaap, Marjo S; Brennan, Paul M; Vanderver, Adeline; Faulkner, Geoffrey J

Ubiquitous L1 mosaicism in hippocampal neurons (Journal Article)

Cell, 161 (2), pp. 228–239, 2015.

(Abstract | Links | BibTeX)

Richardson, Sandra R; Doucet, Aurélien J; Kopera, Huira C; Moldovan, John B; Garcia-Perez, José Luis; Moran, John V

The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes (Journal Article)

Microbiology Spectrum, 3 (2), pp. MDNA3–0061–2014, 2015, ISSN: 2165-0497.

(Abstract | Links | BibTeX | Altmetric)

2014

Richardson, Sandra R; Salvador-Palomeque, Carmen; Faulkner, Geoffrey J

Diversity through duplication: whole-genome sequencing reveals novel gene retrocopies in the human population (Journal Article)

Bioessays, 36 (5), pp. 475–481, 2014.

(Abstract | Links | BibTeX)

Richardson, Sandra R; Narvaiza, Iñigo; Planegger, Randy A; Weitzman, Matthew D; Moran, John V

APOBEC3A deaminates transiently exposed single-strand DNA during LINE-1 retrotransposition (Journal Article)

eLife, 3 , pp. e02008, 2014, ISSN: 2050-084X.

(Abstract | BibTeX)

Richardson, Sandra R; Morell, Santiago; Faulkner, Geoffrey J

L1 retrotransposons and somatic mosaicism in the brain (Journal Article)

Annu. Rev. Genet., 48 , pp. 1–27, 2014.

(Abstract | Links | BibTeX)

Carreira, Patricia E; Richardson, Sandra R; Faulkner, Geoffrey J

L1 retrotransposons, cancer stem cells and oncogenesis (Journal Article)

FEBS J., 281 (1), pp. 63–73, 2014.

(Abstract | Links | BibTeX)