Literature DB >> 31848477

Overcoming challenges and dogmas to understand the functions of pseudogenes.

Seth W Cheetham1, Geoffrey J Faulkner2,3, Marcel E Dinger4.   

Abstract

Pseudogenes are defined as regions of the genome that contain defective copies of genes. They exist across almost all forms of life, and in mammalian genomes are annotated in similar numbers to recognized protein-coding genes. Although often presumed to lack function, growing numbers of pseudogenes are being found to play important biological roles. In consideration of their evolutionary origins and inherent limitations in genome annotation practices, we posit that pseudogenes have been classified on a scientifically unsubstantiated basis. We reflect that a broad misunderstanding of pseudogenes, perpetuated in part by the pejorative inference of the 'pseudogene' label, has led to their frequent dismissal from functional assessment and exclusion from genomic analyses. With the advent of technologies that simplify the study of pseudogenes, we propose that an objective reassessment of these genomic elements will reveal valuable insights into genome function and evolution.

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Year:  2019        PMID: 31848477     DOI: 10.1038/s41576-019-0196-1

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  128 in total

1.  Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome.

Authors:  Zhaolei Zhang; Paul M Harrison; Yin Liu; Mark Gerstein
Journal:  Genome Res       Date:  2003-12       Impact factor: 9.043

2.  Systematic analysis and evolution of 5S ribosomal DNA in metazoans.

Authors:  J Vierna; S Wehner; C Höner zu Siederdissen; A Martínez-Lage; M Marz
Journal:  Heredity (Edinb)       Date:  2013-07-10       Impact factor: 3.821

3.  Human LINE retrotransposons generate processed pseudogenes.

Authors:  C Esnault; J Maestre; T Heidmann
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

Review 4.  Processed pseudogenes: characteristics and evolution.

Authors:  E F Vanin
Journal:  Annu Rev Genet       Date:  1985       Impact factor: 16.830

5.  A pseudogene structure in 5S DNA of Xenopus laevis.

Authors:  C Jacq; J R Miller; G G Brownlee
Journal:  Cell       Date:  1977-09       Impact factor: 41.582

Review 6.  RNA-based gene duplication: mechanistic and evolutionary insights.

Authors:  Henrik Kaessmann; Nicolas Vinckenbosch; Manyuan Long
Journal:  Nat Rev Genet       Date:  2009-01       Impact factor: 53.242

7.  RCPedia: a database of retrocopied genes.

Authors:  Fábio C P Navarro; Pedro A F Galante
Journal:  Bioinformatics       Date:  2013-03-01       Impact factor: 6.937

8.  The GENCODE pseudogene resource.

Authors:  Baikang Pei; Cristina Sisu; Adam Frankish; Cédric Howald; Lukas Habegger; Xinmeng Jasmine Mu; Rachel Harte; Suganthi Balasubramanian; Andrea Tanzer; Mark Diekhans; Alexandre Reymond; Tim J Hubbard; Jennifer Harrow; Mark B Gerstein
Journal:  Genome Biol       Date:  2012-09-26       Impact factor: 13.583

9.  Retrocopy contributions to the evolution of the human genome.

Authors:  Robert Baertsch; Mark Diekhans; W James Kent; David Haussler; Jürgen Brosius
Journal:  BMC Genomics       Date:  2008-10-08       Impact factor: 3.969

10.  GENCODE reference annotation for the human and mouse genomes.

Authors:  Adam Frankish; Mark Diekhans; Anne-Maud Ferreira; Rory Johnson; Irwin Jungreis; Jane Loveland; Jonathan M Mudge; Cristina Sisu; James Wright; Joel Armstrong; If Barnes; Andrew Berry; Alexandra Bignell; Silvia Carbonell Sala; Jacqueline Chrast; Fiona Cunningham; Tomás Di Domenico; Sarah Donaldson; Ian T Fiddes; Carlos García Girón; Jose Manuel Gonzalez; Tiago Grego; Matthew Hardy; Thibaut Hourlier; Toby Hunt; Osagie G Izuogu; Julien Lagarde; Fergal J Martin; Laura Martínez; Shamika Mohanan; Paul Muir; Fabio C P Navarro; Anne Parker; Baikang Pei; Fernando Pozo; Magali Ruffier; Bianca M Schmitt; Eloise Stapleton; Marie-Marthe Suner; Irina Sycheva; Barbara Uszczynska-Ratajczak; Jinuri Xu; Andrew Yates; Daniel Zerbino; Yan Zhang; Bronwen Aken; Jyoti S Choudhary; Mark Gerstein; Roderic Guigó; Tim J P Hubbard; Manolis Kellis; Benedict Paten; Alexandre Reymond; Michael L Tress; Paul Flicek
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

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  51 in total

1.  Pseudogenes: Four Decades of Discovery.

Authors:  Leonardo Salmena
Journal:  Methods Mol Biol       Date:  2021

2.  Genetic evidence of widespread variation in ethanol metabolism among mammals: revisiting the 'myth' of natural intoxication.

Authors:  Mareike C Janiak; Swellan L Pinto; Gwen Duytschaever; Matthew A Carrigan; Amanda D Melin
Journal:  Biol Lett       Date:  2020-04-29       Impact factor: 3.703

Review 3.  Functions of lncRNA DUXAP8 in non-small cell lung cancer.

Authors:  Cui Wu; Wu Song; Zhongnan Wang; Bingmei Wang
Journal:  Mol Biol Rep       Date:  2022-01-15       Impact factor: 2.316

4.  AK4P1 is a cancer-promoting pseudogene in pancreatic adenocarcinoma cells whose transcripts can be transmitted by exosomes.

Authors:  Ling Li; Tao Deng; Qiuying Zhang; Yanlong Yang; Yang Liu; Leyong Yuan; Mingshui Xie
Journal:  Oncol Lett       Date:  2022-03-28       Impact factor: 2.967

5.  Strategies to Study the Functions of Pseudogenes in Mouse Models of Cancer.

Authors:  Ilah Bok; Florian A Karreth
Journal:  Methods Mol Biol       Date:  2021

6.  Long-read cDNA sequencing identifies functional pseudogenes in the human transcriptome.

Authors:  Robin-Lee Troskie; Yohaann Jafrani; Tim R Mercer; Adam D Ewing; Geoffrey J Faulkner; Seth W Cheetham
Journal:  Genome Biol       Date:  2021-05-10       Impact factor: 13.583

Review 7.  Retrotransposons as Drivers of Mammalian Brain Evolution.

Authors:  Roberto Ferrari; Nicole Grandi; Enzo Tramontano; Giorgio Dieci
Journal:  Life (Basel)       Date:  2021-04-22

8.  A novel Oct4/Pou5f1-like non-coding RNA controls neural maturation and mediates developmental effects of ethanol.

Authors:  Nihal A Salem; Amanda H Mahnke; Alexander M Tseng; Cadianna R Garcia; Hooman K Jahromi; Cédric G Geoffroy; Rajesh C Miranda
Journal:  Neurotoxicol Teratol       Date:  2020-11-20       Impact factor: 3.763

9.  Higher Rates of Processed Pseudogene Acquisition in Humans and Three Great Apes Revealed by Long-Read Assemblies.

Authors:  Xiaowen Feng; Heng Li
Journal:  Mol Biol Evol       Date:  2021-06-25       Impact factor: 16.240

10.  An immune-related pseudogene signature to improve prognosis prediction of endometrial carcinoma patients.

Authors:  Shanshan Tang; Yiyi Zhuge
Journal:  Biomed Eng Online       Date:  2021-06-30       Impact factor: 2.819

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