第667回 生医研セミナー(多階層生体防御システム拠点)
ヌクレオチドプール研究センターセミナー
下記のとおり、Dr. Noboru Hiroiによるセミナーを開催致します。講演は英語で行われます。
皆様の積極的なご参加を期待しております。
演題
Copy Number Variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.
（Seminar in English）
演者
Dr. Noboru Hiroi, Ph.D.
Department of Psychiatry and Behavioral Sciences,
Dominick P. Purpura Department of Neuroscience,
Albert Einstein College of Medicine, Bronx, NY, USA
日時
2014年 2月 17日（月）17：00～18：30
場所
九州大学 病院キャンパス内 生体防御医学研究所 本館1階 会議室
以下の地図の21番の建物になります。
（http://www.kyushu-u.ac.jp/access/map/hospital/hospital.html）
要旨
It has been difficult to translate symptoms of developmental neuropsychiatric disorders into mouse models partly because mouse behaviors do not faithfully mimic human symptoms (i.e., face validity) and the precise mechanisms of developmental neuropsychiatric disorders are still poorly understood (i.e., construct validity). Recent discoveries of copy number variants (CNVs)--and their robust association with many developmental neuropsychiatric disorders--have provided an entry point to develop mouse models that partly satisfy construct validity. A CNV at 22q11.2 is reliably associated with extraordinarily high rates of autism spectrum disorder, schizophrenia, intellectual disability and attention deficit hyperactivity disorder. However, as this CNV, like many other CNVs, includes many genes, the precise manner through which individual 22q11.2 genes confer heightened susceptibility to developmental neuropsychiatric disorders cannot be ascertained in humans. Our group has capitalized on this association and has ascertained small 22q11.2 segments and single genes whose dose alteration causes behavioral phenotypes in mouse models. I will discuss the functional contribution of three 22q11.2 genes (Tbx1, Sept5 and Comt) to behavioral phenotypes related to neuropsychiatric disorders and their potential cellular substrates.
連絡先
九州大学 生体防御医学研究所 脳機能制御学分野
中別府 雄作
電話：092-642-6800