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16 results on '"Guiblet, Wilfried"'

1. Nucleosome reorganisation in breast cancer tissues

Author

Jacob, Divya R., Guiblet, Wilfried M., Mamayusupova, Hulkar, Shtumpf, Mariya, Ciuta, Isabella, Ruje, Luminita, Gretton, Svetlana, Bikova, Milena, Correa, Clark, Dellow, Emily, Agrawal, Shivam P., Shafiei, Navid, Drobysevskaja, Anastasija, Armstrong, Chris M., Lam, Jonathan D. G., Vainshtein, Yevhen, Clarkson, Christopher T., Thorn, Graeme J., Sohn, Kai, Pradeepa, Madapura M., Chandrasekharan, Sankaran, Brooke, Greg N., Klenova, Elena, Zhurkin, Victor B., and Teif, Vladimir B.

Published
2024
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2. Accurate sequencing of DNA motifs able to form alternative (non-B) structures.

Author

Eckert, Kristin, Chiaromonte, Francesca, Huang, Yi-Fei, Makova, Kateryna, Weissensteiner, Matthias, Cremona, Marzia, Guiblet, Wilfried, Stoler, Nicholas, Harris, Robert, and Cechova, Monika

Subjects
Humans, Nucleotide Motifs, DNA, Z-Form, Sequence Analysis, DNA, DNA, Base Composition, High-Throughput Nucleotide Sequencing, Nanopores
Abstract

Approximately 13% of the human genome at certain motifs have the potential to form noncanonical (non-B) DNA structures (e.g., G-quadruplexes, cruciforms, and Z-DNA), which regulate many cellular processes but also affect the activity of polymerases and helicases. Because sequencing technologies use these enzymes, they might possess increased errors at non-B structures. To evaluate this, we analyzed error rates, read depth, and base quality of Illumina, Pacific Biosciences (PacBio) HiFi, and Oxford Nanopore Technologies (ONT) sequencing at non-B motifs. All technologies showed altered sequencing success for most non-B motif types, although this could be owing to several factors, including structure formation, biased GC content, and the presence of homopolymers. Single-nucleotide mismatch errors had low biases in HiFi and ONT for all non-B motif types but were increased for G-quadruplexes and Z-DNA in all three technologies. Deletion errors were increased for all non-B types but Z-DNA in Illumina and HiFi, as well as only for G-quadruplexes in ONT. Insertion errors for non-B motifs were highly, moderately, and slightly elevated in Illumina, HiFi, and ONT, respectively. Additionally, we developed a probabilistic approach to determine the number of false positives at non-B motifs depending on sample size and variant frequency, and applied it to publicly available data sets (1000 Genomes, Simons Genome Diversity Project, and gnomAD). We conclude that elevated sequencing errors at non-B DNA motifs should be considered in low-read-depth studies (single-cell, ancient DNA, and pooled-sample population sequencing) and in scoring rare variants. Combining technologies should maximize sequencing accuracy in future studies of non-B DNA.

Published
2023

3. Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate.

Author

Guiblet, Wilfried, Cremona, Marzia, Cechova, Monika, Harris, Robert, Kejnovská, Iva, Kejnovsky, Eduard, Eckert, Kristin, Chiaromonte, Francesca, and Makova, Kateryna

Subjects
DNA, DNA Replication, G-Quadruplexes, Genomics, High-Throughput Nucleotide Sequencing, Humans, Kinetics, Mutation, Nucleic Acid Conformation, Nucleotide Motifs, Reproducibility of Results, Sequence Analysis, DNA
Abstract

DNA conformation may deviate from the classical B-form in ∼13% of the human genome. Non-B DNA regulates many cellular processes; however, its effects on DNA polymerization speed and accuracy have not been investigated genome-wide. Such an inquiry is critical for understanding neurological diseases and cancer genome instability. Here, we present the first simultaneous examination of DNA polymerization kinetics and errors in the human genome sequenced with Single-Molecule Real-Time (SMRT) technology. We show that polymerization speed differs between non-B and B-DNA: It decelerates at G-quadruplexes and fluctuates periodically at disease-causing tandem repeats. Analyzing polymerization kinetics profiles, we predict and validate experimentally non-B DNA formation for a novel motif. We demonstrate that several non-B motifs affect sequencing errors (e.g., G-quadruplexes increase error rates), and that sequencing errors are positively associated with polymerase slowdown. Finally, we show that highly divergent G4 motifs have pronounced polymerization slowdown and high sequencing error rates, suggesting similar mechanisms for sequencing errors and germline mutations.

Published
2018

4. Reconstructing Native American Migrations from Whole-genome and Whole-exome Data

Author

Gravel, Simon, Zakharia, Fouad, Moreno-Estrada, Andres, Byrnes, Jake K, Muzzio, Marina, Rodriguez-Flores, Juan L., Kenny, Eimear E., Gignoux, Christopher R., Maples, Brian K., Guiblet, Wilfried, Dutil, Julie, Via, Marc, Sandoval, Karla, Bedoya, Gabriel, Oleksyk, Taras K, Ruiz-Linares, Andres, Burchard, Esteban G, Martinez-Cruzado, Juan Carlos, Bustamante, Carlos D., and Project, The 1000 Genomes

Subjects
Quantitative Biology - Populations and Evolution, Quantitative Biology - Genomics, 92D25
Abstract

There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, and how current inhabitants relate genetically to earlier populations. Recent studies unraveled parts of the genetic history of the continent using genotyping arrays and uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our understanding of population genetic history by providing over a hundred sequenced low coverage genomes and exomes from Colombian (CLM), Mexican-American (MXL), and Puerto Rican (PUR) populations. Here, we explore the genomic contributions of African, European, and Native American ancestry to these populations. Estimated Native American ancestry is 48% in MXL, 25% in CLM, and 13% in PUR. Native American ancestry in PUR is most closely related to populations surrounding the Orinoco River basin, confirming the Southern America ancestry of the Ta\'ino people of the Caribbean. We present new methods to estimate the allele frequencies in the Native American fraction of the populations, and model their distribution using a demographic model for three ancestral Native American populations. These ancestral populations likely split in close succession: the most likely scenario, based on a peopling of the Americas 16 thousand years ago (kya), supports that the MXL Ancestors split 12.2kya, with a subsequent split of the ancestors to CLM and PUR 11.7kya. The model also features effective populations of 62,000 in Mexico, 8,700 in Colombia, and 1,900 in Puerto Rico. Modeling Identity-by-descent and ancestry tract length, we show that post-contact populations differ markedly in their effective sizes and migration patterns, with Puerto Rico showing the smallest effective size and the earlier migration from Europe., Comment: 30 pages, inludes supplement. v2 contains clarifications, extra analyses, and a change in the language classification scheme used

Published
2013

8. A locally funded Puerto Rican parrot (Amazona vittata) genome sequencing project increases avian data and advances young researcher education

Author

Oleksyk Taras K, Pombert Jean-Francois, Siu Daniel, Mazo-Vargas Anyimilehidi, Ramos Brian, Guiblet Wilfried, Afanador Yashira, Ruiz-Rodriguez Christina T, Nickerson Michael L, Logue David M, Dean Michael, Figueroa Luis, Valentin Ricardo, and Martinez-Cruzado Juan-Carlos

Subjects
Amazona vittata, Puerto rican parrot, Genome sequence, Annotation, Assembly, Local funding, Education, Computer applications to medicine. Medical informatics, R858-859.7
Abstract

Abstract Background Amazona vittata is a critically endangered Puerto Rican endemic bird, the only surviving native parrot species in the United States territory, and the first parrot in the large Neotropical genus Amazona, to be studied on a genomic scale. Findings In a unique community-based funded project, DNA from an A. vittata female was sequenced using a HiSeq Illumina platform, resulting in a total of ~42.5 billion nucleotide bases. This provided approximately 26.89x average coverage depth at the completion of this funding phase. Filtering followed by assembly resulted in 259,423 contigs (N50 = 6,983 bp, longest = 75,003 bp), which was further scaffolded into 148,255 fragments (N50 = 19,470, longest = 206,462 bp). This provided ~76% coverage of the genome based on an estimated size of 1.58 Gb. The assembled scaffolds allowed basic genomic annotation and comparative analyses with other available avian whole-genome sequences. Conclusions The current data represents the first genomic information from and work carried out with a unique source of funding. This analysis further provides a means for directed training of young researchers in genetic and bioinformatics analyses and will facilitate progress towards a full assembly and annotation of the Puerto Rican parrot genome. It also adds extensive genomic data to a new branch of the avian tree, making it useful for comparative analyses with other avian species. Ultimately, the knowledge acquired from these data will contribute to an improved understanding of the overall population health of this species and aid in ongoing and future conservation efforts.

Published
2012
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10. Sequencing rare and common APOL1 coding variants to determine kidney disease risk

Author

Limou, Sophie, primary, Nelson, George W., additional, Lecordier, Laurence, additional, An, Ping, additional, O'hUigin, Colm S., additional, David, Victor A., additional, Binns-Roemer, Elizabeth A., additional, Guiblet, Wilfried M., additional, Oleksyk, Taras K., additional, Pays, Etienne, additional, Kopp, Jeffrey B., additional, and Winkler, Cheryl A., additional

Published
2015
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11. Drosophila Muller F Elements Maintain a Distinct Set of Genomic Properties Over 40 Million Years of Evolution

Author

Leung, Wilson, primary, Shaffer, Christopher D, additional, Reed, Laura K, additional, Smith, Sheryl T, additional, Barshop, William, additional, Dirkes, William, additional, Dothager, Matthew, additional, Lee, Paul, additional, Wong, Jeannette, additional, Xiong, David, additional, Yuan, Han, additional, Bedard, James E J, additional, Machone, Joshua F, additional, Patterson, Seantay D, additional, Price, Amber L, additional, Turner, Bryce A, additional, Robic, Srebrenka, additional, Luippold, Erin K, additional, McCartha, Shannon R, additional, Walji, Tezin A, additional, Walker, Chelsea A, additional, Saville, Kenneth, additional, Abrams, Marita K, additional, Armstrong, Andrew R, additional, Armstrong, William, additional, Bailey, Robert J, additional, Barberi, Chelsea R, additional, Beck, Lauren R, additional, Blaker, Amanda L, additional, Blunden, Christopher E, additional, Brand, Jordan P, additional, Brock, Ethan J, additional, Brooks, Dana W, additional, Brown, Marie, additional, Butzler, Sarah C, additional, Clark, Eric M, additional, Clark, Nicole B, additional, Collins, Ashley A, additional, Cotteleer, Rebecca J, additional, Cullimore, Peterson R, additional, Dawson, Seth G, additional, Docking, Carter T, additional, Dorsett, Sasha L, additional, Dougherty, Grace A, additional, Downey, Kaitlyn A, additional, Drake, Andrew P, additional, Earl, Erica K, additional, Floyd, Trevor G, additional, Forsyth, Joshua D, additional, Foust, Jonathan D, additional, Franchi, Spencer L, additional, Geary, James F, additional, Hanson, Cynthia K, additional, Harding, Taylor S, additional, Harris, Cameron B, additional, Heckman, Jonathan M, additional, Holderness, Heather L, additional, Howey, Nicole A, additional, Jacobs, Dontae A, additional, Jewell, Elizabeth S, additional, Kaisler, Maria, additional, Karaska, Elizabeth A, additional, Kehoe, James L, additional, Koaches, Hannah C, additional, Koehler, Jessica, additional, Koenig, Dana, additional, Kujawski, Alexander J, additional, Kus, Jordan E, additional, Lammers, Jennifer A, additional, Leads, Rachel R, additional, Leatherman, Emily C, additional, Lippert, Rachel N, additional, Messenger, Gregory S, additional, Morrow, Adam T, additional, Newcomb, Victoria, additional, Plasman, Haley J, additional, Potocny, Stephanie J, additional, Powers, Michelle K, additional, Reem, Rachel M, additional, Rennhack, Jonathan P, additional, Reynolds, Katherine R, additional, Reynolds, Lyndsey A, additional, Rhee, Dong K, additional, Rivard, Allyson B, additional, Ronk, Adam J, additional, Rooney, Meghan B, additional, Rubin, Lainey S, additional, Salbert, Luke R, additional, Saluja, Rasleen K, additional, Schauder, Taylor, additional, Schneiter, Allison R, additional, Schulz, Robert W, additional, Smith, Karl E, additional, Spencer, Sarah, additional, Swanson, Bryant R, additional, Tache, Melissa A, additional, Tewilliager, Ashley A, additional, Tilot, Amanda K, additional, VanEck, Eve, additional, Villerot, Matthew M, additional, Vylonis, Megan B, additional, Watson, David T, additional, Wurzler, Juliana A, additional, Wysocki, Lauren M, additional, Yalamanchili, Monica, additional, Zaborowicz, Matthew A, additional, Emerson, Julia A, additional, Ortiz, Carlos, additional, Deuschle, Frederic J, additional, DiLorenzo, Lauren A, additional, Goeller, Katie L, additional, Macchi, Christopher R, additional, Muller, Sarah E, additional, Pasierb, Brittany D, additional, Sable, Joseph E, additional, Tucci, Jessica M, additional, Tynon, Marykathryn, additional, Dunbar, David A, additional, Beken, Levent H, additional, Conturso, Alaina C, additional, Danner, Benjamin L, additional, DeMichele, Gabriella A, additional, Gonzales, Justin A, additional, Hammond, Maureen S, additional, Kelley, Colleen V, additional, Kelly, Elisabeth A, additional, Kulich, Danielle, additional, Mageeney, Catherine M, additional, McCabe, Nikie L, additional, Newman, Alyssa M, additional, Spaeder, Lindsay A, additional, Tumminello, Richard A, additional, Revie, Dennis, additional, Benson, Jonathon M, additional, Cristostomo, Michael C, additional, DaSilva, Paolo A, additional, Harker, Katherine S, additional, Jarrell, Jenifer N, additional, Jimenez, Luis A, additional, Katz, Brandon M, additional, Kennedy, William R, additional, Kolibas, Kimberly S, additional, LeBlanc, Mark T, additional, Nguyen, Trung T, additional, Nicolas, Daniel S, additional, Patao, Melissa D, additional, Patao, Shane M, additional, Rupley, Bryan J, additional, Sessions, Bridget J, additional, Weaver, Jennifer A, additional, Goodman, Anya L, additional, Alvendia, Erica L, additional, Baldassari, Shana M, additional, Brown, Ashley S, additional, Chase, Ian O, additional, Chen, Maida, additional, Chiang, Scott, additional, Cromwell, Avery B, additional, Custer, Ashley F, additional, DiTommaso, Tia M, additional, El-Adaimi, Jad, additional, Goscinski, Nora C, additional, Grove, Ryan A, additional, Gutierrez, Nestor, additional, Harnoto, Raechel S, additional, Hedeen, Heather, additional, Hong, Emily L, additional, Hopkins, Barbara L, additional, Huerta, Vilma F, additional, Khoshabian, Colin, additional, LaForge, Kristin M, additional, Lee, Cassidy T, additional, Lewis, Benjamin M, additional, Lydon, Anniken M, additional, Maniaci, Brian J, additional, Mitchell, Ryan D, additional, Morlock, Elaine V, additional, Morris, William M, additional, Naik, Priyanka, additional, Olson, Nicole C, additional, Osterloh, Jeannette M, additional, Perez, Marcos A, additional, Presley, Jonathan D, additional, Randazzo, Matt J, additional, Regan, Melanie K, additional, Rossi, Franca G, additional, Smith, Melanie A, additional, Soliterman, Eugenia A, additional, Sparks, Ciani J, additional, Tran, Danny L, additional, Wan, Tiffany, additional, Welker, Anne A, additional, Wong, Jeremy N, additional, Sreenivasan, Aparna, additional, Youngblom, Jim, additional, Adams, Andrew, additional, Alldredge, Justin, additional, Bryant, Ashley, additional, Carranza, David, additional, Cifelli, Alyssa, additional, Coulson, Kevin, additional, Debow, Calise, additional, Delacruz, Noelle, additional, Emerson, Charlene, additional, Farrar, Cassandra, additional, Foret, Don, additional, Garibay, Edgar, additional, Gooch, John, additional, Heslop, Michelle, additional, Kaur, Sukhjit, additional, Khan, Ambreen, additional, Kim, Van, additional, Lamb, Travis, additional, Lindbeck, Peter, additional, Lucas, Gabi, additional, Macias, Elizabeth, additional, Martiniuc, Daniela, additional, Mayorga, Lissett, additional, Medina, Joseph, additional, Membreno, Nelson, additional, Messiah, Shady, additional, Neufeld, Lacey, additional, Nguyen, San Francisco, additional, Nichols, Zachary, additional, Odisho, George, additional, Peterson, Daymon, additional, Rodela, Laura, additional, Rodriguez, Priscilla, additional, Rodriguez, Vanessa, additional, Ruiz, Jorge, additional, Sherrill, Will, additional, Silva, Valeria, additional, Sparks, Jeri, additional, Statton, Geeta, additional, Townsend, Ashley, additional, Valdez, Isabel, additional, Waters, Mary, additional, Westphal, Kyle, additional, Winkler, Stacey, additional, Zumkehr, Joannee, additional, DeJong, Randall J, additional, Hoogewerf, Arlene J, additional, Ackerman, Cheri M, additional, Armistead, Isaac O, additional, Baatenburg, Lara, additional, Borr, Matthew J, additional, Brouwer, Lindsay K, additional, Burkhart, Brandon J, additional, Bushhouse, Kelsey T, additional, Cesko, Lejla, additional, Choi, Tiffany Y Y, additional, Cohen, Heather, additional, Damsteegt, Amanda M, additional, Darusz, Jess M, additional, Dauphin, Cory M, additional, Davis, Yelena P, additional, Diekema, Emily J, additional, Drewry, Melissa, additional, Eisen, Michelle E M, additional, Faber, Hayley M, additional, Faber, Katherine J, additional, Feenstra, Elizabeth, additional, Felzer-Kim, Isabella T, additional, Hammond, Brandy L, additional, Hendriksma, Jesse, additional, Herrold, Milton R, additional, Hilbrands, Julia A, additional, Howell, Emily J, additional, Jelgerhuis, Sarah A, additional, Jelsema, Timothy R, additional, Johnson, Benjamin K, additional, Jones, Kelly K, additional, Kim, Anna, additional, Kooienga, Ross D, additional, Menyes, Erika E, additional, Nollet, Eric A, additional, Plescher, Brittany E, additional, Rios, Lindsay, additional, Rose, Jenny L, additional, Schepers, Allison J, additional, Scott, Geoff, additional, Smith, Joshua R, additional, Sterling, Allison M, additional, Tenney, Jenna C, additional, Uitvlugt, Chris, additional, VanDyken, Rachel E, additional, VanderVennen, Marielle, additional, Vue, Samantha, additional, Kokan, Nighat P, additional, Agbley, Kwabea, additional, Boham, Sampson K, additional, Broomfield, Daniel, additional, Chapman, Kayla, additional, Dobbe, Ali, additional, Dobbe, Ian, additional, Harrington, William, additional, Ibrahem, Marwan, additional, Kennedy, Andre, additional, Koplinsky, Chad A, additional, Kubricky, Cassandra, additional, Ladzekpo, Danielle, additional, Pattison, Claire, additional, Ramirez, Roman E, additional, Wande, Lucia, additional, Woehlke, Sarah, additional, Wawersik, Matthew, additional, Kiernan, Elizabeth, additional, Thompson, Jeffrey S, additional, Banker, Roxanne, additional, Bartling, Justina R, additional, Bhatiya, Chinmoy I, additional, Boudoures, Anna L, additional, Christiansen, Lena, additional, Fosselman, Daniel S, additional, French, Kristin M, additional, Gill, Ishwar S, additional, Havill, Jessen T, additional, Johnson, Jaelyn L, additional, Keny, Lauren J, additional, Kerber, John M, additional, Klett, Bethany M, additional, Kufel, Christina N, additional, May, Francis J, additional, Mecoli, Jonathan P, additional, Merry, Callie R, additional, Meyer, Lauren R, additional, Miller, Emily G, additional, Mullen, Gregory J, additional, Palozola, Katherine C, additional, Pfeil, Jacob J, additional, Thomas, Jessica G, additional, Verbofsky, Evan M, additional, Spana, Eric P, additional, Agarwalla, Anant, additional, Chapman, Julia, additional, Chlebina, Ben, additional, Chong, Insun, additional, Falk, I N, additional, Fitzgibbons, John D, additional, Friedman, Harrison, additional, Ighile, Osagie, additional, Kim, Andrew J, additional, Knouse, Kristin A, additional, Kung, Faith, additional, Mammo, Danny, additional, Ng, Chun Leung, additional, Nikam, Vinayak S, additional, Norton, Diana, additional, Pham, Philip, additional, Polk, Jessica W, additional, Prasad, Shreya, additional, Rankin, Helen, additional, Ratliff, Camille D, additional, Scala, Victoria, additional, Schwartz, Nicholas U, additional, Shuen, Jessica A, additional, Xu, Amy, additional, Xu, Thomas Q, additional, Zhang, Yi, additional, Rosenwald, Anne G, additional, Burg, Martin G, additional, Adams, Stephanie J, additional, Baker, Morgan, additional, Botsford, Bobbi, additional, Brinkley, Briana, additional, Brown, Carter, additional, Emiah, Shadie, additional, Enoch, Erica, additional, Gier, Chad, additional, Greenwell, Alyson, additional, Hoogenboom, Lindsay, additional, Matthews, Jordan E, additional, McDonald, Mitchell, additional, Mercer, Amanda, additional, Monsma, Nicholaus, additional, Ostby, Kristine, additional, Ramic, Alen, additional, Shallman, Devon, additional, Simon, Matthew, additional, Spencer, Eric, additional, Tomkins, Trisha, additional, Wendland, Pete, additional, Wylie, Anna, additional, Wolyniak, Michael J, additional, Robertson, Gregory M, additional, Smith, Samuel I, additional, DiAngelo, Justin R, additional, Sassu, Eric D, additional, Bhalla, Satish C, additional, Sharif, Karim A, additional, Choeying, Tenzin, additional, Macias, Jason S, additional, Sanusi, Fareed, additional, Torchon, Karvyn, additional, Bednarski, April E, additional, Alvarez, Consuelo J, additional, Davis, Kristen C, additional, Dunham, Carrie A, additional, Grantham, Alaina J, additional, Hare, Amber N, additional, Schottler, Jennifer, additional, Scott, Zackary W, additional, Kuleck, Gary A, additional, Yu, Nicole S, additional, Kaehler, Marian M, additional, Jipp, Jacob, additional, Overvoorde, Paul J, additional, Shoop, Elizabeth, additional, Cyrankowski, Olivia, additional, Hoover, Betsy, additional, Kusner, Matt, additional, Lin, Devry, additional, Martinov, Tijana, additional, Misch, Jonathan, additional, Salzman, Garrett, additional, Schiedermayer, Holly, additional, Snavely, Michael, additional, Zarrasola, Stephanie, additional, Parrish, Susan, additional, Baker, Atlee, additional, Beckett, Alissa, additional, Belella, Carissa, additional, Bryant, Julie, additional, Conrad, Turner, additional, Fearnow, Adam, additional, Gomez, Carolina, additional, Herbstsomer, Robert A, additional, Hirsch, Sarah, additional, Johnson, Christen, additional, Jones, Melissa, additional, Kabaso, Rita, additional, Lemmon, Eric, additional, Vieira, Carolina Marques dos Santos, additional, McFarland, Darryl, additional, McLaughlin, Christopher, additional, Morgan, Abbie, additional, Musokotwane, Sepo, additional, Neutzling, William, additional, Nietmann, Jana, additional, Paluskievicz, Christina, additional, Penn, Jessica, additional, Peoples, Emily, additional, Pozmanter, Caitlin, additional, Reed, Emily, additional, Rigby, Nichole, additional, Schmidt, Lasse, additional, Shelton, Micah, additional, Shuford, Rebecca, additional, Tirasawasdichai, Tiara, additional, Undem, Blair, additional, Urick, Damian, additional, Vondy, Kayla, additional, Yarrington, Bryan, additional, Eckdahl, Todd T, additional, Poet, Jeffrey L, additional, Allen, Alica B, additional, Anderson, John E, additional, Barnett, Jason M, additional, Baumgardner, Jordan S, additional, Brown, Adam D, additional, Carney, Jordan E, additional, Chavez, Ramiro A, additional, Christgen, Shelbi L, additional, Christie, Jordan S, additional, Clary, Andrea N, additional, Conn, Michel A, additional, Cooper, Kristen M, additional, Crowley, Matt J, additional, Crowley, Samuel T, additional, Doty, Jennifer S, additional, Dow, Brian A, additional, Edwards, Curtis R, additional, Elder, Darcie D, additional, Fanning, John P, additional, Janssen, Bridget M, additional, Lambright, Anthony K, additional, Lane, Curtiss E, additional, Limle, Austin B, additional, Mazur, Tammy, additional, McCracken, Marly R, additional, McDonough, Alexa M, additional, Melton, Amy D, additional, Minnick, Phillip J, additional, Musick, Adam E, additional, Newhart, William H, additional, Noynaert, Joseph W, additional, Ogden, Bradley J, additional, Sandusky, Michael W, additional, Schmuecker, Samantha M, additional, Shipman, Anna L, additional, Smith, Anna L, additional, Thomsen, Kristen M, additional, Unzicker, Matthew R, additional, Vernon, William B, additional, Winn, Wesley W, additional, Woyski, Dustin S, additional, Zhu, Xiao, additional, Du, Chunguang, additional, Ament, Caitlin, additional, Aso, Soham, additional, Bisogno, Laura Simone, additional, Caronna, Jason, additional, Fefelova, Nadezhda, additional, Lopez, Lenin, additional, Malkowitz, Lorraine, additional, Marra, Jonathan, additional, Menillo, Daniella, additional, Obiorah, Ifeanyi, additional, Onsarigo, Eric Nyabeta, additional, Primus, Shekerah, additional, Soos, Mahdi, additional, Tare, Archana, additional, Zidan, Ameer, additional, Jones, Christopher J, additional, Aronhalt, Todd, additional, Bellush, James M, additional, Burke, Christa, additional, DeFazio, Steve, additional, Does, Benjamin R, additional, Johnson, Todd D, additional, Keysock, Nicholas, additional, Knudsen, Nelson H, additional, Messler, James, additional, Myirski, Kevin, additional, Rekai, Jade Lea, additional, Rempe, Ryan Michael, additional, Salgado, Michael S, additional, Stagaard, Erica, additional, Starcher, Justin R, additional, Waggoner, Andrew W, additional, Yemelyanova, Anastasia K, additional, Hark, Amy T, additional, Bertolet, Anne, additional, Kuschner, Cyrus E, additional, Parry, Kesley, additional, Quach, Michael, additional, Shantzer, Lindsey, additional, Shaw, Mary E, additional, Smith, Mary A, additional, Glenn, Omolara, additional, Mason, Portia, additional, Williams, Charlotte, additional, Key, S Catherine Silver, additional, Henry, Tyneshia C P, additional, Johnson, Ashlee G, additional, White, Jackie X, additional, Haberman, Adam, additional, Asinof, Sam, additional, Drumm, Kelly, additional, Freeburg, Trip, additional, Safa, Nadia, additional, Schultz, Darrin, additional, Shevin, Yakov, additional, Svoronos, Petros, additional, Vuong, Tam, additional, Wellinghoff, Jules, additional, Hoopes, Laura L M, additional, Chau, Kim M, additional, Ward, Alyssa, additional, Regisford, E Gloria C, additional, Augustine, LaJerald, additional, Davis-Reyes, Brionna, additional, Echendu, Vivienne, additional, Hales, Jasmine, additional, Ibarra, Sharon, additional, Johnson, Lauriaun, additional, Ovu, Steven, additional, Braverman, John M, additional, Bahr, Thomas J, additional, Caesar, Nicole M, additional, Campana, Christopher, additional, Cassidy, Daniel W, additional, Cognetti, Peter A, additional, English, Johnathan D, additional, Fadus, Matthew C, additional, Fick, Cameron N, additional, Freda, Philip J, additional, Hennessy, Bryan M, additional, Hockenberger, Kelsey, additional, Jones, Jennifer K, additional, King, Jessica E, additional, Knob, Christopher R, additional, Kraftmann, Karen J, additional, Li, Linghui, additional, Lupey, Lena N, additional, Minniti, Carl J, additional, Minton, Thomas F, additional, Moran, Joseph V, additional, Mudumbi, Krishna, additional, Nordman, Elizabeth C, additional, Puetz, William J, additional, Robinson, Lauren M, additional, Rose, Thomas J, additional, Sweeney, Edward P, additional, Timko, Ashley S, additional, Paetkau, Don W, additional, Eisler, Heather L, additional, Aldrup, Megan E, additional, Bodenberg, Jessica M, additional, Cole, Mara G, additional, Deranek, Kelly M, additional, DeShetler, Megan, additional, Dowd, Rose M, additional, Eckardt, Alexandra K, additional, Ehret, Sharon C, additional, Fese, Jessica, additional, Garrett, Amanda D, additional, Kammrath, Anna, additional, Kappes, Michelle L, additional, Light, Morgan R, additional, Meier, Anne C, additional, O’Rouke, Allison, additional, Perella, Mallory, additional, Ramsey, Kimberley, additional, Ramthun, Jennifer R, additional, Reilly, Mary T, additional, Robinett, Deirdre, additional, Rossi, Nadine L, additional, Schueler, Mary Grace, additional, Shoemaker, Emma, additional, Starkey, Kristin M, additional, Vetor, Ashley, additional, Vrable, Abby, additional, Chandrasekaran, Vidya, additional, Beck, Christopher, additional, Hatfield, Kristen R, additional, Herrick, Douglas A, additional, Khoury, Christopher B, additional, Lea, Charlotte, additional, Louie, Christopher A, additional, Lowell, Shannon M, additional, Reynolds, Thomas J, additional, Schibler, Jeanine, additional, Scoma, Alexandra H, additional, Smith-Gee, Maxwell T, additional, Tuberty, Sarah, additional, Smith, Christopher D, additional, Lopilato, Jane E, additional, Hauke, Jeanette, additional, Roecklein-Canfield, Jennifer A, additional, Corrielus, Maureen, additional, Gilman, Hannah, additional, Intriago, Stephanie, additional, Maffa, Amanda, additional, Rauf, Sabya A, additional, Thistle, Katrina, additional, Trieu, Melissa, additional, Winters, Jenifer, additional, Yang, Bib, additional, Hauser, Charles R, additional, Abusheikh, Tariq, additional, Ashrawi, Yara, additional, Benitez, Pedro, additional, Boudreaux, Lauren R, additional, Bourland, Megan, additional, Chavez, Miranda, additional, Cruz, Samantha, additional, Elliott, GiNell, additional, Farek, Jesse R, additional, Flohr, Sarah, additional, Flores, Amanda H, additional, Friedrichs, Chelsey, additional, Fusco, Zach, additional, Goodwin, Zane, additional, Helmreich, Eric, additional, Kiley, John, additional, Knepper, John Mark, additional, Langner, Christine, additional, Martinez, Megan, additional, Mendoza, Carlos, additional, Naik, Monal, additional, Ochoa, Andrea, additional, Ragland, Nicolas, additional, Raimey, England, additional, Rathore, Sunil, additional, Reza, Evangelina, additional, Sadovsky, Griffin, additional, Seydoux, Marie-Isabelle B, additional, Smith, Jonathan E, additional, Unruh, Anna K, additional, Velasquez, Vicente, additional, Wolski, Matthew W, additional, Gosser, Yuying, additional, Govind, Shubha, additional, Clarke-Medley, Nicole, additional, Guadron, Leslie, additional, Lau, Dawn, additional, Lu, Alvin, additional, Mazzeo, Cheryl, additional, Meghdari, Mariam, additional, Ng, Simon, additional, Pamnani, Brad, additional, Plante, Olivia, additional, Shum, Yuki Kwan Wa, additional, Song, Roy, additional, Johnson, Diana E, additional, Abdelnabi, Mai, additional, Archambault, Alexi, additional, Chamma, Norma, additional, Gaur, Shailly, additional, Hammett, Deborah, additional, Kandahari, Adrese, additional, Khayrullina, Guzal, additional, Kumar, Sonali, additional, Lawrence, Samantha, additional, Madden, Nigel, additional, Mandelbaum, Max, additional, Milnthorp, Heather, additional, Mohini, Shiv, additional, Patel, Roshni, additional, Peacock, Sarah J, additional, Perling, Emily, additional, Quintana, Amber, additional, Rahimi, Michael, additional, Ramirez, Kristen, additional, Singhal, Rishi, additional, Weeks, Corinne, additional, Wong, Tiffany, additional, Gillis, Aubree T, additional, Moore, Zachary D, additional, Savell, Christopher D, additional, Watson, Reece, additional, Mel, Stephanie F, additional, Anilkumar, Arjun A, additional, Bilinski, Paul, additional, Castillo, Rostislav, additional, Closser, Michael, additional, Cruz, Nathalia M, additional, Dai, Tiffany, additional, Garbagnati, Giancarlo F, additional, Horton, Lanor S, additional, Kim, Dongyeon, additional, Lau, Joyce H, additional, Liu, James Z, additional, Mach, Sandy D, additional, Phan, Thu A, additional, Ren, Yi, additional, Stapleton, Kenneth E, additional, Strelitz, Jean M, additional, Sunjed, Ray, additional, Stamm, Joyce, additional, Anderson, Morgan C, additional, Bonifield, Bethany Grace, additional, Coomes, Daniel, additional, Dillman, Adam, additional, Durchholz, Elaine J, additional, Fafara-Thompson, Antoinette E, additional, Gross, Meleah J, additional, Gygi, Amber M, additional, Jackson, Lesley E, additional, Johnson, Amy, additional, Kocsisova, Zuzana, additional, Manghelli, Joshua L, additional, McNeil, Kylie, additional, Murillo, Michael, additional, Naylor, Kierstin L, additional, Neely, Jessica, additional, Ogawa, Emmy E, additional, Rich, Ashley, additional, Rogers, Anna, additional, Spencer, J Devin, additional, Stemler, Kristina M, additional, Throm, Allison A, additional, Van Camp, Matt, additional, Weihbrecht, Katie, additional, Wiles, T Aaron, additional, Williams, Mallory A, additional, Williams, Matthew, additional, Zoll, Kyle, additional, Bailey, Cheryl, additional, Zhou, Leming, additional, Balthaser, Darla M, additional, Bashiri, Azita, additional, Bower, Mindy E, additional, Florian, Kayla A, additional, Ghavam, Nazanin, additional, Greiner-Sosanko, Elizabeth S, additional, Karim, Helmet, additional, Mullen, Victor W, additional, Pelchen, Carly E, additional, Yenerall, Paul M, additional, Zhang, Jiayu, additional, Rubin, Michael R, additional, Arias-Mejias, Suzette M, additional, Bermudez-Capo, Armando G, additional, Bernal-Vega, Gabriela V, additional, Colon-Vazquez, Mariela, additional, Flores-Vazquez, Arelys, additional, Gines-Rosario, Mariela, additional, Llavona-Cartagena, Ivan G, additional, Martinez-Rodriguez, Javier O, additional, Ortiz-Fuentes, Lionel, additional, Perez-Colomba, Eliezer O, additional, Perez-Otero, Joseph, additional, Rivera, Elisandra, additional, Rodriguez-Giron, Luke J, additional, Santiago-Sanabria, Arnaldo J, additional, Senquiz-Gonzalez, Andrea M, additional, delValle, Frank R Soto, additional, Vargas-Franco, Dorianmarie, additional, Velázquez-Soto, Karla I, additional, Zambrana-Burgos, Joan D, additional, Martinez-Cruzado, Juan Carlos, additional, Asencio-Zayas, Lillyann, additional, Babilonia-Figueroa, Kevin, additional, Beauchamp-Pérez, Francis D, additional, Belén-Rodríguez, Juliana, additional, Bracero-Quiñones, Luciann, additional, Burgos-Bula, Andrea P, additional, Collado-Méndez, Xavier A, additional, Colón-Cruz, Luis R, additional, Correa-Muller, Ana I, additional, Crooke-Rosado, Jonathan L, additional, Cruz-García, José M, additional, Defendini-Ávila, Marianna, additional, Delgado-Peraza, Francheska M, additional, Feliciano-Cancela, Alex J, additional, Gónzalez-Pérez, Valerie M, additional, Guiblet, Wilfried, additional, Heredia-Negrón, Aldo, additional, Hernández-Muñiz, Jennifer, additional, Irizarry-González, Lourdes N, additional, Laboy-Corales, Ángel L, additional, Llaurador-Caraballo, Gabriela A, additional, Marín-Maldonado, Frances, additional, Marrero-Llerena, Ulises, additional, Martell-Martínez, Héctor A, additional, Martínez-Traverso, Idaliz M, additional, Medina-Ortega, Kiara N, additional, Méndez-Castellanos, Sonya G, additional, Menéndez-Serrano, Krizia C, additional, Morales-Caraballo, Carol I, additional, Ortiz-DeChoudens, Saryleine, additional, Ortiz-Ortiz, Patricia, additional, Pagán-Torres, Hendrick, additional, Pérez-Afanador, Diana, additional, Quintana-Torres, Enid M, additional, Ramírez-Aponte, Edwin G, additional, Riascos-Cuero, Carolina, additional, Rivera-Llovet, Michelle S, additional, Rivera-Pagán, Ingrid T, additional, Rivera-Vicéns, Ramón E, additional, Robles-Juarbe, Fabiola, additional, Rodríguez-Bonilla, Lorraine, additional, Rodríguez-Echevarría, Brian O, additional, Rodríguez-García, Priscila M, additional, Rodríguez-Laboy, Abneris E, additional, Rodríguez-Santiago, Susana, additional, Rojas-Vargas, Michael L, additional, Rubio-Marrero, Eva N, additional, Santiago-Colón, Albeliz, additional, Santiago-Ortiz, Jorge L, additional, Santos-Ramos, Carlos E, additional, Serrano-González, Joseline, additional, Tamayo-Figueroa, Alina M, additional, Tascón-Peñaranda, Edna P, additional, Torres-Castillo, José L, additional, Valentín-Feliciano, Nelson A, additional, Valentín-Feliciano, Yashira M, additional, Vargas-Barreto, Nadyan M, additional, Vélez-Vázquez, Miguel, additional, Vilanova-Vélez, Luis R, additional, Zambrana-Echevarría, Cristina, additional, MacKinnon, Christy, additional, Chung, Hui-Min, additional, Kay, Chris, additional, Pinto, Anthony, additional, Kopp, Olga R, additional, Burkhardt, Joshua, additional, Harward, Chris, additional, Allen, Robert, additional, Bhat, Pavan, additional, Chang, Jimmy Hsiang-Chun, additional, Chen, York, additional, Chesley, Christopher, additional, Cohn, Dara, additional, DuPuis, David, additional, Fasano, Michael, additional, Fazzio, Nicholas, additional, Gavinski, Katherine, additional, Gebreyesus, Heran, additional, Giarla, Thomas, additional, Gostelow, Marcus, additional, Greenstein, Rachel, additional, Gunasinghe, Hashini, additional, Hanson, Casey, additional, Hay, Amanda, additional, He, Tao Jian, additional, Homa, Katie, additional, Howe, Ruth, additional, Howenstein, Jeff, additional, Huang, Henry, additional, Khatri, Aaditya, additional, Kim, Young Lu, additional, Knowles, Olivia, additional, Kong, Sarah, additional, Krock, Rebecca, additional, Kroll, Matt, additional, Kuhn, Julia, additional, Kwong, Matthew, additional, Lee, Brandon, additional, Lee, Ryan, additional, Levine, Kevin, additional, Li, Yedda, additional, Liu, Bo, additional, Liu, Lucy, additional, Liu, Max, additional, Lousararian, Adam, additional, Ma, Jimmy, additional, Mallya, Allyson, additional, Manchee, Charlie, additional, Marcus, Joseph, additional, McDaniel, Stephen, additional, Miller, Michelle L, additional, Molleston, Jerome M, additional, Diez, Cristina Montero, additional, Ng, Patrick, additional, Ngai, Natalie, additional, Nguyen, Hien, additional, Nylander, Andrew, additional, Pollack, Jason, additional, Rastogi, Suchita, additional, Reddy, Himabindu, additional, Regenold, Nathaniel, additional, Sarezky, Jon, additional, Schultz, Michael, additional, Shim, Jien, additional, Skorupa, Tara, additional, Smith, Kenneth, additional, Spencer, Sarah J, additional, Srikanth, Priya, additional, Stancu, Gabriel, additional, Stein, Andrew P, additional, Strother, Marshall, additional, Sudmeier, Lisa, additional, Sun, Mengyang, additional, Sundaram, Varun, additional, Tazudeen, Noor, additional, Tseng, Alan, additional, Tzeng, Albert, additional, Venkat, Rohit, additional, Venkataram, Sandeep, additional, Waldman, Leah, additional, Wang, Tracy, additional, Yang, Hao, additional, Yu, Jack Y, additional, Zheng, Yin, additional, Preuss, Mary L, additional, Garcia, Angelica, additional, Juergens, Matt, additional, Morris, Robert W, additional, Nagengast, Alexis A, additional, Azarewicz, Julie, additional, Carr, Thomas J, additional, Chichearo, Nicole, additional, Colgan, Mike, additional, Donegan, Megan, additional, Gardner, Bob, additional, Kolba, Nik, additional, Krumm, Janice L, additional, Lytle, Stacey, additional, MacMillian, Laurell, additional, Miller, Mary, additional, Montgomery, Andrew, additional, Moretti, Alysha, additional, Offenbacker, Brittney, additional, Polen, Mike, additional, Toth, John, additional, Woytanowski, John, additional, Kadlec, Lisa, additional, Crawford, Justin, additional, Spratt, Mary L, additional, Adams, Ashley L, additional, Barnard, Brianna K, additional, Cheramie, Martin N, additional, Eime, Anne M, additional, Golden, Kathryn L, additional, Hawkins, Allyson P, additional, Hill, Jessica E, additional, Kampmeier, Jessica A, additional, Kern, Cody D, additional, Magnuson, Emily E, additional, Miller, Ashley R, additional, Morrow, Cody M, additional, Peairs, Julia C, additional, Pickett, Gentry L, additional, Popelka, Sarah A, additional, Scott, Alexis J, additional, Teepe, Emily J, additional, TerMeer, Katie A, additional, Watchinski, Carmen A, additional, Watson, Lucas A, additional, Weber, Rachel E, additional, Woodard, Kate A, additional, Barnard, Daron C, additional, Appiah, Isaac, additional, Giddens, Michelle M, additional, McNeil, Gerard P, additional, Adebayo, Adeola, additional, Bagaeva, Kate, additional, Chinwong, Justina, additional, Dol, Chrystel, additional, George, Eunice, additional, Haltaufderhyde, Kirk, additional, Haye, Joanna, additional, Kaur, Manpreet, additional, Semon, Max, additional, Serjanov, Dmitri, additional, Toorie, Anika, additional, Wilson, Christopher, additional, Riddle, Nicole C, additional, Buhler, Jeremy, additional, Mardis, Elaine R, additional, and Elgin, Sarah C R, additional

Published
2015
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13. The integrated stress response regulates 18S nonfunctional rRNA decay in mammals.

Author

Coria AR, Shah A, Shafieinouri M, Taylor SJ, Guiblet W, Miller JT, Mani Sharma I, and Wu CC

Abstract

18S nonfunctional rRNA decay (NRD) detects and eliminates translationally nonfunctional 18S rRNA. While this process is critical for ribosome quality control, the mechanisms underlying nonfunctional 18S rRNA turnover remain elusive. NRD was originally identified and has exclusively been studied in Saccharomyces cerevisiae. Here, we show that 18S NRD is conserved in mammals. Using genome-wide CRISPR genetic interaction screens, we find that mammalian NRD acts through the integrated stress response (ISR) via GCN2 and ribosomal protein ubiquitination by RNF10. Selective ribosome profiling reveals nonfunctional 18S rRNA induces translational arrest at start sites. Indeed, biochemical analyses demonstrate that ISR activation limits translation initiation and attenuates collisions between scanning 43S preinitiation complexes and nonfunctional 80S ribosomes arrested at start sites. Overall, the ISR promotes nonfunctional 18S rRNA and 40S ribosomal protein turnover by RNF10-mediated ubiquitination. These findings establish a dynamic feedback mechanism by which the GCN2-RNF10 axis surveils ribosome functionality at translation initiation.

Published
2024
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14. The modification landscape of P. aeruginosa tRNAs.

Author

Mandler MD, Maligireddy SS, Guiblet WM, Fitzsimmons CM, McDonald KS, Warrell DL, and Batista PJ

Abstract

RNA modifications have a substantial impact on tRNA function, with modifications in the anticodon loop contributing to translational fidelity and modifications in the tRNA core impacting structural stability. In bacteria, tRNA modifications are crucial for responding to stress and regulating the expression of virulence factors. Although tRNA modifications are well-characterized in a few model organisms, our knowledge of tRNA modifications in human pathogens, such as Pseudomonas aeruginosa , remains limited. Here we leveraged two orthogonal approaches to build a reference landscape of tRNA modifications in E. coli , which enabled us to identify similar modifications in P. aeruginosa . Our analysis revealed a substantial degree of conservation between the two organisms, while also uncovering potential sites of tRNA modification in P. aeruginosa tRNAs that are not present in E. coli . The mutational signature at one of these sites, position 46 of tRNA Gln1(UUG) is dependent on the P. aeruginosa homolog of TapT, the enzyme responsible for the 3-(3-amino-3-carboxypropyl) uridine (acp 3 U) modification. Identifying which modifications are present on different tRNAs will uncover the pathways impacted by the different tRNA modifying enzymes, some of which play roles in determining virulence and pathogenicity.

Published
2024
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15. Drosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution.

Author

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Subjects
Animals, Codon, Computational Biology, DNA Transposable Elements, Drosophila melanogaster genetics, Exons, Gene Rearrangement, Heterochromatin, Introns, Molecular Sequence Annotation, Polytene Chromosomes, Repetitive Sequences, Nucleic Acid, Selection, Genetic, Species Specificity, Drosophila genetics, Drosophila Proteins genetics, Evolution, Molecular, Genome, Genomics
Abstract

The Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution of repeats and genes, we manually improved the sequence and annotated the genes on the D. erecta, D. mojavensis, and D. grimshawi F elements and euchromatic domains from the Muller D element. We find that F elements have greater transposon density (25-50%) than euchromatic reference regions (3-11%). Among the F elements, D. grimshawi has the lowest transposon density (particularly DINE-1: 2% vs. 11-27%). F element genes have larger coding spans, more coding exons, larger introns, and lower codon bias. Comparison of the Effective Number of Codons with the Codon Adaptation Index shows that, in contrast to the other species, codon bias in D. grimshawi F element genes can be attributed primarily to selection instead of mutational biases, suggesting that density and types of transposons affect the degree of local heterochromatin formation. F element genes have lower estimated DNA melting temperatures than D element genes, potentially facilitating transcription through heterochromatin. Most F element genes (~90%) have remained on that element, but the F element has smaller syntenic blocks than genome averages (3.4-3.6 vs. 8.4-8.8 genes per block), indicating greater rates of inversion despite lower rates of recombination. Overall, the F element has maintained characteristics that are distinct from other autosomes in the Drosophila lineage, illuminating the constraints imposed by a heterochromatic milieu., (Copyright © 2015 Leung et al.)

Published
2015
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16. Reconstructing Native American migrations from whole-genome and whole-exome data.

Author

Gravel S, Zakharia F, Moreno-Estrada A, Byrnes JK, Muzzio M, Rodriguez-Flores JL, Kenny EE, Gignoux CR, Maples BK, Guiblet W, Dutil J, Via M, Sandoval K, Bedoya G, Oleksyk TK, Ruiz-Linares A, Burchard EG, Martinez-Cruzado JC, and Bustamante CD

Subjects
Black People genetics, Chromosome Mapping, Exome, Genome, Human, Hispanic or Latino genetics, Human Genome Project, Humans, Mexican Americans genetics, Mexico, Puerto Rico, Racial Groups genetics, White People genetics, Gene Frequency genetics, Genetics, Population, Human Migration, Indians, North American genetics
Abstract

There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, and how current inhabitants relate genetically to earlier populations. Recent studies unraveled parts of the genetic history of the continent using genotyping arrays and uniparental markers. The 1000 Genomes Project provides a unique opportunity for improving our understanding of population genetic history by providing over a hundred sequenced low coverage genomes and exomes from Colombian (CLM), Mexican-American (MXL), and Puerto Rican (PUR) populations. Here, we explore the genomic contributions of African, European, and especially Native American ancestry to these populations. Estimated Native American ancestry is 48% in MXL, 25% in CLM, and 13% in PUR. Native American ancestry in PUR is most closely related to populations surrounding the Orinoco River basin, confirming the Southern American ancestry of the Taíno people of the Caribbean. We present new methods to estimate the allele frequencies in the Native American fraction of the populations, and model their distribution using a demographic model for three ancestral Native American populations. These ancestral populations likely split in close succession: the most likely scenario, based on a peopling of the Americas 16 thousand years ago (kya), supports that the MXL Ancestors split 12.2kya, with a subsequent split of the ancestors to CLM and PUR 11.7kya. The model also features effective populations of 62,000 in Mexico, 8,700 in Colombia, and 1,900 in Puerto Rico. Modeling Identity-by-descent (IBD) and ancestry tract length, we show that post-contact populations also differ markedly in their effective sizes and migration patterns, with Puerto Rico showing the smallest effective size and the earlier migration from Europe. Finally, we compare IBD and ancestry assignments to find evidence for relatedness among European founders to the three populations., Competing Interests: The authors have declared that no competing interests exist.

Published
2013
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