AHI1

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AHI1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAHI1, AHI-1, JBTS3, ORF1, dJ71N10.1, Abelson helper integration site 1
External IDsOMIM: 608894; MGI: 87971; HomoloGene: 9762; GeneCards: AHI1; OMA:AHI1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

54806

52906

Ensembl

ENSG00000135541

ENSMUSG00000019986

UniProt

Q8N157

Q8K3E5

RefSeq (mRNA)

NM_001177776
NM_026203
NM_001358561

RefSeq (protein)

XP_006512862.1

Location (UCSC)Chr 6: 135.28 – 135.5 MbChr 10: 20.83 – 20.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development.[5] 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.[5] 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.[6] AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development.[7] An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate 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.[7]

Jouberin is a protein that in humans is encoded by the AHI1 gene.[8][9][10]

References

  1. GRCh38: Ensembl release 89: ENSG00000135541 – Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000019986 – Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, et al. (December 2004). "Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria". American Journal of Human Genetics. 75 (6): 979–987. doi:10.1086/425985. PMC 1182159. PMID 15467982.
  6. Amann-Zalcenstein D, Avidan N, Kanyas K, Ebstein RP, Kohn Y, Hamdan A, et al. (October 2006). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". European Journal of Human Genetics. 14 (10): 1111–1119. doi:10.1038/sj.ejhg.5201675. PMID 16773125.
  7. Lotan A, Lifschytz T, Slonimsky A, Broner EC, Greenbaum L, Abedat S, et al. (February 2014). "Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders". Molecular Psychiatry. 19 (2): 243–252. doi:10.1038/mp.2013.123. PMID 24042478.
  8. Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, et al. (April 2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". Journal of Medical Genetics. 41 (4): 273–277. doi:10.1136/jmg.2003.014787. PMC 1735723. PMID 15060101.
  9. Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, et al. (March 2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome". Pediatric Nephrology. 21 (1): 32–35. doi:10.1007/s00467-005-2054-y. hdl:2027.42/47827. PMID 16240161. S2CID 18955859.
  10. "Entrez Gene: AHI1 Abelson helper integration site 1".

Further reading