The Abelson helper integration site 1 (AHI1) is a protein coding
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
that is known for the critical role it plays in
brain development
The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The fiel ...
.
Proper cerebellar and cortical development in the
human brain
The human brain is the central organ (anatomy), organ of the human nervous system, and with the spinal cord makes up the central nervous system. The brain consists of the cerebrum, the brainstem and the cerebellum. It controls most of the act ...
depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic
hindbrain
The hindbrain or rhombencephalon or lower brain is a developmental categorization of portions of the central nervous system in vertebrates. It includes the medulla, pons, and cerebellum. Together they support vital bodily processes. Metencephal ...
and
forebrain
In the anatomy of the brain of vertebrates, the forebrain or prosencephalon is the rostral (forward-most) portion of the brain. The forebrain (prosencephalon), the midbrain (mesencephalon), and hindbrain (rhombencephalon) are the three primary ...
.
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
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...
that AHI1 mutations have the potential to induce.
AHI1 has also been associated with
schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social wit ...
and
autism due to the role it plays in brain development.
An AHI1 heterozygous knockout mouse model was studied by
Bernard Lerer
Bernard ('' Bernhard'') is a French and West Germanic masculine given name. It is also a surname.
The name is attested from at least the 9th century. West Germanic ''Bernhard'' is composed from the two elements ''bern'' "bear" and ''hard'' "brav ...
and his group at
Hadassah Medical Center
Hadassah Medical Center ( he, הָמֶרְכָּז הָרְפוּאִי הֲדַסָּה) is an Israeli medical organization established in 1934 that operates two university hospitals in Jerusalem – one in Ein Karem and one in Mount Scopus –, ...
in
Jerusalem
Jerusalem (; he, יְרוּשָׁלַיִם ; ar, القُدس ) (combining the Biblical and common usage Arabic names); grc, Ἱερουσαλήμ/Ἰεροσόλυμα, Hierousalḗm/Hierosóluma; hy, Երուսաղեմ, Erusałēm. i ...
to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of
neuropsychiatric
Neuropsychiatry or Organic Psychiatry is a branch of medicine that deals with psychiatry as it relates to neurology, in an effort to understand and attribute behavior to the interaction of neurobiology and social psychology factors. Within neurop ...
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.
Jouberin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''AHI1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
References
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