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词条 AHI1
释义

  1. References

  2. External links

  3. Further reading

The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development.[1] Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain.[1] AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce.[2] AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development.[3] An AHI1 heterozygous knockout mouse model was created to study the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.[3]

{{Infobox_gene}}Jouberin is a protein that in humans is encoded by the AHI1 gene.[4][5][6]

References

1. ^1 {{Cite journal|last=Dixon-Salazar|first=Tracy|last2=Silhavy|first2=Jennifer L.|last3=Marsh|first3=Sarah E.|last4=Louie|first4=Carrie M.|last5=Scott|first5=Lesley C.|last6=Gururaj|first6=Aithala|last7=Al-Gazali|first7=Lihadh|last8=Al-Tawari|first8=Asma A.|last9=Kayserili|first9=Hulya|date=2004-12-01|title=Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria|journal=American Journal of Human Genetics|volume=75|issue=6|pages=979–987|issn=0002-9297|pmc=1182159|pmid=15467982|doi=10.1086/425985}}
2. ^{{Cite journal|last=Amann-Zalcenstein|first=Daniela|last2=Avidan|first2=Nili|last3=Kanyas|first3=Kyra|last4=Ebstein|first4=Richard P.|last5=Kohn|first5=Yoav|last6=Hamdan|first6=Adnan|last7=Ben-Asher|first7=Edna|last8=Karni|first8=Osnat|last9=Mujaheed|first9=Muhammed|date=2006-06-14|title=AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia|journal=European Journal of Human Genetics|language=en|volume=14|issue=10|pages=1111–1119|doi=10.1038/sj.ejhg.5201675|issn=1018-4813|pmid=16773125}}
3. ^1 {{Cite journal|last=Lotan|first=A|last2=Lifschytz|first2=T|last3=Slonimsky|first3=A|last4=Broner|first4=E C|last5=Greenbaum|first5=L|last6=Abedat|first6=S|last7=Fellig|first7=Y|last8=Cohen|first8=H|last9=Lory|first9=O|title=Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders|journal=Molecular Psychiatry|volume=19|issue=2|pages=243–252|doi=10.1038/mp.2013.123|pmid=24042478|year=2014}}
4. ^{{cite journal |vauthors=Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M | title = Homozygosity mapping of a third Joubert syndrome locus to 6q23 | journal = J Med Genet | volume = 41 | issue = 4 | pages = 273–7 |date=Apr 2004 | pmid = 15060101 | pmc = 1735723 | doi =10.1136/jmg.2003.014787 }}
5. ^{{cite journal |vauthors=Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F | title = Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome | journal = Pediatr Nephrol | volume = 21 | issue = 1 | pages = 32–5 |date=Mar 2006 | pmid = 16240161 | pmc = | doi = 10.1007/s00467-005-2054-y }}
6. ^{{cite web | title = Entrez Gene: AHI1 Abelson helper integration site 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54806| accessdate = }}

External links

  • {{UCSC gene info|AHI1}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
  • {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
  • {{cite journal |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}
  • {{cite journal |vauthors=Wiemann S, Weil B, Wellenreuther R |title=Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 |display-authors=etal}}
  • {{cite journal |vauthors=Jiang X, Hanna Z, Kaouass M |title=Ahi-1, a Novel Gene Encoding a Modular Protein with WD40-Repeat and SH3 Domains, Is Targeted by the Ahi-1 and Mis-2 Provirus Integrations |journal=J. Virol. |volume=76 |issue= 18 |pages= 9046–59 |year= 2002 |pmid= 12186888 |doi=10.1128/JVI.76.18.9046-9059.2002 | pmc=136442 |display-authors=etal}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |display-authors=etal}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal |vauthors=Jiang X, Zhao Y, Chan WY |title=Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia |journal=Blood |volume=103 |issue= 10 |pages= 3897–904 |year= 2004 |pmid= 14751929 |doi= 10.1182/blood-2003-11-4026 |display-authors=etal}}
  • {{cite journal |vauthors=Close J, Game L, Clark B |title=Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults |journal=BMC Genomics |volume=5 |issue=1 |pages= 33 |year= 2004 |pmid= 15169551 |doi= 10.1186/1471-2164-5-33 | pmc=441375 |display-authors=etal}}
  • {{cite journal |vauthors=Ferland RJ, Eyaid W, Collura RV |title=Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome |journal=Nat. Genet. |volume=36 |issue= 9 |pages= 1008–13 |year= 2004 |pmid= 15322546 |doi= 10.1038/ng1419 |display-authors=etal}}
  • {{cite journal |vauthors=Dixon-Salazar T, Silhavy JL, Marsh SE |title=Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria |journal=Am. J. Hum. Genet. |volume=75 |issue= 6 |pages= 979–87 |year= 2005 |pmid= 15467982 |doi= 10.1086/425985 | pmc=1182159 |display-authors=etal}}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal |vauthors=Wiemann S, Arlt D, Huber W |title=From ORFeome to Biology: A Functional Genomics Pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 |display-authors=etal}}
  • {{cite journal |vauthors=Parisi MA, Doherty D, Eckert ML |title=AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome |journal=J. Med. Genet. |volume=43 |issue= 4 |pages= 334–9 |year= 2006 |pmid= 16155189 |doi= 10.1136/jmg.2005.036608 | pmc=2563230 |display-authors=etal}}
  • {{cite journal |vauthors=Mehrle A, Rosenfelder H, Schupp I |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 |display-authors=etal}}
  • {{cite journal |vauthors=Valente EM, Brancati F, Silhavy JL |title=AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders |journal=Ann. Neurol. |volume=59 |issue= 3 |pages= 527–34 |year= 2006 |pmid= 16453322 |doi= 10.1002/ana.20749 |display-authors=etal}}
  • {{cite journal |vauthors=Amann-Zalcenstein D, Avidan N, Kanyas K |title=AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia |journal=Eur. J. Hum. Genet. |volume=14 |issue= 10 |pages= 1111–9 |year= 2006 |pmid= 16773125 |doi= 10.1038/sj.ejhg.5201675 |display-authors=etal}}
{{refend}}{{Ciliary proteins}}{{gene-6-stub}}
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