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Literature DB >> 24008202

The role of AUTS2 in neurodevelopment and human evolution.

Abstract

The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurological diseases, including autism, and has been implicated as an important gene in human-specific evolution. Recent functional analysis of this gene has revealed a potential role in neuronal development. Here, we review the literature regarding AUTS2, including its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways. Through progress in clinical genomic analysis, the medical importance of this gene is becoming more apparent, as highlighted in this review, but more work needs to be done to discover the precise function and the genetic pathways associated with AUTS2.

Entities: Chemical Disease Gene Mutation Species

Keywords: AUTS2; autism; human evolution; neurodevelopment

Mesh：

Substances：

Year: 2013 PMID： 24008202 PMCID： PMC3823538 DOI： 10.1016/j.tig.2013.08.001

Source DB: PubMed Journal: Trends Genet ISSN： 0168-9525 Impact factor: 11.639

77 in total

1. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

Authors: Sandesh C S Nagamani; Ayelet Erez; Bruria Ben-Zeev; Moshe Frydman; Susan Winter; Robert Zeller; Dima El-Khechen; Luis Escobar; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung
Journal: Eur J Hum Genet Date: 2012-08-08 Impact factor: 4.246

2. Characterizing the cancer genome in lung adenocarcinoma.

Authors: Barbara A Weir; Michele S Woo; Gad Getz; Sven Perner; Li Ding; Rameen Beroukhim; William M Lin; Michael A Province; Aldi Kraja; Laura A Johnson; Kinjal Shah; Mitsuo Sato; Roman K Thomas; Justine A Barletta; Ingrid B Borecki; Stephen Broderick; Andrew C Chang; Derek Y Chiang; Lucian R Chirieac; Jeonghee Cho; Yoshitaka Fujii; Adi F Gazdar; Thomas Giordano; Heidi Greulich; Megan Hanna; Bruce E Johnson; Mark G Kris; Alex Lash; Ling Lin; Neal Lindeman; Elaine R Mardis; John D McPherson; John D Minna; Margaret B Morgan; Mark Nadel; Mark B Orringer; John R Osborne; Brad Ozenberger; Alex H Ramos; James Robinson; Jack A Roth; Valerie Rusch; Hidefumi Sasaki; Frances Shepherd; Carrie Sougnez; Margaret R Spitz; Ming-Sound Tsao; David Twomey; Roel G W Verhaak; George M Weinstock; David A Wheeler; Wendy Winckler; Akihiko Yoshizawa; Soyoung Yu; Maureen F Zakowski; Qunyuan Zhang; David G Beer; Ignacio I Wistuba; Mark A Watson; Levi A Garraway; Marc Ladanyi; William D Travis; William Pao; Mark A Rubin; Stacey B Gabriel; Richard A Gibbs; Harold E Varmus; Richard K Wilson; Eric S Lander; Matthew Meyerson
Journal: Nature Date: 2007-11-04 Impact factor: 49.962

3. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors: Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal: Nature Date: 2009-04-28 Impact factor: 49.962

4. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Authors: Betul Bakkaloglu; Brian J O'Roak; Angeliki Louvi; Abha R Gupta; Jesse F Abelson; Thomas M Morgan; Katarzyna Chawarska; Ami Klin; A Gulhan Ercan-Sencicek; Althea A Stillman; Gamze Tanriover; Brett S Abrahams; Jackie A Duvall; Elissa M Robbins; Daniel H Geschwind; Thomas Biederer; Murat Gunel; Richard P Lifton; Matthew W State
Journal: Am J Hum Genet Date: 2008-01 Impact factor: 11.025

Review 5. Advances in autism genetics: on the threshold of a new neurobiology.

Authors: Brett S Abrahams; Daniel H Geschwind
Journal: Nat Rev Genet Date: 2008-05 Impact factor: 53.242

6. Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.

Authors: E J Young; T Lipina; E Tam; A Mandel; S J Clapcote; A R Bechard; J Chambers; H T J Mount; P J Fletcher; J C Roder; L R Osborne
Journal: Genes Brain Behav Date: 2007-08-03 Impact factor: 3.449

7. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.

Authors: A-M Lepagnol-Bestel; G Maussion; B Boda; A Cardona; Y Iwayama; A-L Delezoide; J-M Moalic; D Muller; B Dean; T Yoshikawa; P Gorwood; J D Buxbaum; N Ramoz; M Simonneau
Journal: Mol Psychiatry Date: 2008-01-08 Impact factor: 15.992

8. Transcriptional profiling of subjects from the Iowa adoption studies.

Authors: Robert A Philibert; Gi-Yung Ryu; Jae-Geun Yoon; Harinder Sandhu; Nancy Hollenbeck; Tracy Gunter; Amanda Barkhurst; William Adams; Anup Madan
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2007-07-05 Impact factor: 3.568

9. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Authors: Shay Ben-Shachar; Maria Chahrour; Christina Thaller; Chad A Shaw; Huda Y Zoghbi
Journal: Hum Mol Genet Date: 2009-04-15 Impact factor: 6.150

10. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authors: Gea Beunders; Els Voorhoeve; Christelle Golzio; Luba M Pardo; Jill A Rosenfeld; Michael E Talkowski; Ingrid Simonic; Anath C Lionel; Sarah Vergult; Robert E Pyatt; Jiddeke van de Kamp; Aggie Nieuwint; Marjan M Weiss; Patrizia Rizzu; Lucilla E N I Verwer; Rosalina M L van Spaendonk; Yiping Shen; Bai-lin Wu; Tingting Yu; Yongguo Yu; Colby Chiang; James F Gusella; Amelia M Lindgren; Cynthia C Morton; Ellen van Binsbergen; Saskia Bulk; Els van Rossem; Olivier Vanakker; Ruth Armstrong; Soo-Mi Park; Lynn Greenhalgh; Una Maye; Nicholas J Neill; Kristin M Abbott; Susan Sell; Roger Ladda; Darren M Farber; Patricia I Bader; Tom Cushing; Joanne M Drautz; Laura Konczal; Patricia Nash; Emily de Los Reyes; Melissa T Carter; Elizabeth Hopkins; Christian R Marshall; Lucy R Osborne; Karen W Gripp; Devon Lamb Thrush; Sayaka Hashimoto; Julie M Gastier-Foster; Caroline Astbury; Bauke Ylstra; Hanne Meijers-Heijboer; Danielle Posthuma; Björn Menten; Geert Mortier; Stephen W Scherer; Evan E Eichler; Santhosh Girirajan; Nicholas Katsanis; Alexander J Groffen; Erik A Sistermans
Journal: Am J Hum Genet Date: 2013-01-17 Impact factor: 11.025

51 in total

1. The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility.

Authors: Wei Dang; Qian Zhang; Yong-Sheng Zhu; Xiao-Yun Lu
Journal: J Mol Neurosci Date: 2014-11-15 Impact factor: 3.444

The role of AUTS2 in neurodevelopment and human evolution.

1. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

2. Characterizing the cancer genome in lung adenocarcinoma.

3. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

4. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Review 5. Advances in autism genetics: on the threshold of a new neurobiology.

6. Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.

7. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.

8. Transcriptional profiling of subjects from the Iowa adoption studies.

9. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

10. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

1. The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility.

Review 2. Histone H2A Monoubiquitination in Neurodevelopmental Disorders.

Review 3. Polycomb and trithorax opposition in development and disease.

4. Epigenomic Landscapes of hESC-Derived Neural Rosettes: Modeling Neural Tube Formation and Diseases.

Review 5. Enhancing our brains: Genomic mechanisms underlying cortical evolution.

6. Regions of variable DNA methylation in human placenta associated with newborn neurobehavior.

Review 7. Genomic divergence and brain evolution: How regulatory DNA influences development of the cerebral cortex.

8. De novo mutation in RING1 with epigenetic effects on neurodevelopment.

9. AUTS2 isoforms control neuronal differentiation.

10. De novo TBR1 mutations in sporadic autism disrupt protein functions.