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 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.[3]
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
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 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.[3]
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.