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    <article_id>2-B-P-078</article_id>
    <title>
      <title_ja>概日リズムにおける知的障害関連遺伝子産物CHAMP1の機能解析</title_ja> 
      <title_en>Functional analysis of CHAMP1, a gene product associated with intellectual disability, in circadian rhythms</title_en> 
    </title>
    <author>
      <author_ja>〇橋本 一真<sup>1</sup>、三浦 大樹<sup>1</sup>、福島 穂高<sup>1</sup>、竹本 龍也<sup>2</sup>、中澤 敬信<sup>1</sup></author_ja>
      <author_en><u>Kazuma Hashimoto</u><sup>1</sup>, Daiki Miura<sup>1</sup>, Hotaka Fukushima<sup>1</sup>, Tatsuya Takemoto<sup>2</sup>, Takanobu Nakazawa<sup>1</sup></author_en>
    </author>
    <aff>
      <aff_ja><sup>1</sup>東農大・院生命・バイオサイエンス、<sup>2</sup>徳島大・先端酵素学研究所・発生生物</aff_ja>
      <aff_en><sup>1</sup>Lab. Mol. Biol., Dept. of Biosci., Grad. Sch. of Life Sci., Tokyo Univ. Agr., <sup>2</sup>Lab. Embryo., Inst. Adv. Med. Sci., Tokushima Univ.</aff_en>
    </aff>
  <abstract>Circadian rhythms are biological phenomena that regulate the behavior of organisms, fluctuating in approximately 24-hour cycles, and regulate basic physiological functions such as sleep, metabolism, and hormone secretion. Chromosome alignment-maintaining phosphoprotein 1 (CHAMP1) is known as one of the candidate causative genes of intellectual disability (ID). Recent clinical studies have found that patients with ID harboring de novo mutations on the <i>CHAMP1</i> gene have often sleep difficulties. In this study, we focused on the molecular and cellular mechanisms underlying sleep difficulties. First, we found that the <i>Champ1</i> gene expression exhibited a time-dependent rhythm when clock genes were synchronized by serum shock in NIH3T3 cells. We also found that the expression level of the Clock<i> </i>gene, one of the clock genes, was decreased when the <i>Champ1</i> expression was suppressed. Furthermore, we found that the period of a mouse model heterozygous for a <i>CHAMP1</i> mutation identified in a patient with ID was significantly longer under constant dark conditions in actogram analysis. Our results suggest that sleep difficulties in patients with ID harboring <i>CHAMP1</i> gene mutations may be due to circadian rhythm dysregulation.</abstract> <trans_abst> </trans_abst> </article>