University of the Ryukyus · Faculty of Medicine · 教授

Research keywordsGenotyping・遺伝的多様性・Genetics・遺伝学・琉球列島人・進化・沖縄・情報

Research fieldsOrthodontic/Pediatric dentistry・Physical anthropology・Humanities・Humanities and Social Sciences・Anthropology・Medicine, Dentistry, and Pharmacy・Applied anthropology・Informatics

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• Factors associated with bone thickness: Comparison of the cranium and humerus.2023 · Goto S, Kataoka K, Isa M, Nakamori K, Yoshida M, Murayama S, Arasaki A, Ishida H, Kimura R
• RELN rs7341475 Associates with Brain Structure in Japanese Healthy Females.2022 · Although temperament has been regarded as an innate aspect of human personality, its association with proteins involved in embryonic development is unclear. Reelin, encoded by RELN, plays an important role in brain development. Herein, we investigated the association between the RELN rs7341475 (G/A) single nucleotide polymorphism, detected as a female-specific risk factor for schizophrenia, brain structure, and temperament to elucidate the role of RELN in the development of human personality. In this study, 1580 healthy young Japanese adults were genotyped for RELN rs7341475 and completed the Temperament and Character Inventory. Whole-brain analysis of covariance was conducted to investigate differences between genotypes in regional gray matter volume (rGMV) and cortical morphology. Additionally, multiple regression analysis was performed to examine the association of four temperaments with rGMV. Those statistical analyses were performed separately for males and females. Individuals with G/G homozygosity showed significantly greater rGMV in several areas of the brain, particularly the bilateral cingulate and temporal gyrus, as well as a larger value of fractal dimension in the left lateral occipital cortex. Furthermore, of the four temperaments, the novelty seeking was significantly and positively associated with rGMV in the right superior temporal gyrus, partially overlapping with areas where differences between the rs7341475 genotypes were detected. The above findings were detected only in females, but not in males. This is the first study to demonstrate the contribution of RELN rs7341475 to differences in brain structure in Japanese females, which may indicate vulnerability to schizophrenia and variations in human personality.
• Haplotype phasing of a bipolar disorder pedigree revealed rare multiple mutations of SPOCD1 gene in the 1p36-35 susceptibility locus.2022 · BACKGROUND: The etiology of bipolar disorder (BD) is poorly understood. Considering the complexity of BD, pedigree-based sequencing studies focusing on haplotypes at specific loci may be practical to discover high-impact risk variants. This study comprehensively examined the haplotype sequence at 1p36-35 BD and recurrent depressive disorder (RDD) susceptibility loci. METHODS: We surveyed BD families in Okinawa, Japan. We performed linkage analysis and determined the phased sequence of the affected haplotype using whole genome sequencing. We filtered rare missense variants on the haplotype. For validation, we conducted a case-control genetic association study on approximately 3000 Japanese subjects. RESULTS: We identified a three-generation multiplex pedigree with BD and RDD. Strikingly, we identified a significant linkage with mood disorders (logarithm of odds [LOD] = 3.61) at 1p36-35, supported in other ancestry studies. Finally, we determined the entire sequence of the 6.4-Mb haplotype shared by all affected subjects. Moreover, we found a rare triplet of missense variants in the SPOCD1 gene on the haplotype. Notably, despite the rare frequency, one heterozygote with multiple SPOCD1 variants was identified in an independent set of 88 BD type I genotyping samples. LIMITATIONS: The 1p36-35 sequence was obtained from only a single pedigree. The replicate sample was small. Short-read sequencing might miss structural variants. A polygenic risk score was not analyzed. CONCLUSION: The 1p36-35 haplotype sequence may be valuable for future BD variant studies. In particular, SPOCD1 is a promising candidate gene and should be validated.
• Genetic basis for the evolution of pelvic-fin brooding, a new mode of reproduction, in a Sulawesian fish.2022 · Modes of reproduction in animals are diverse, with different modes having evolved independently in multiple lineages across a variety of taxa. However, an understanding of the genomic change driving the transition between different modes of reproduction is limited. Several ricefishes (Adrianichthyidae) on the island of Sulawesi have a unique mode of reproduction called "pelvic-fin brooding," wherein females carry externally fertilized eggs until hatching using their pelvic fins. Phylogenomic analysis demonstrated pelvic-fin brooders to have evolved at least twice in two distant clades of the Adrianichthyidae. We investigated the genetic architecture of the evolution of this unique mode of reproduction. Morphological analyses and laboratory observations revealed that females of pelvic-fin brooders have longer pelvic fins and a deeper abdominal concavity, and that they can carry an egg clutch for longer than non-brooding adrianichthyids, suggesting that these traits play important roles in this reproductive mode. Quantitative trait locus mapping using a cross between a pelvic-fin brooder Oryzias eversi and a non-brooding O. dopingdopingensis reveals different traits involved in pelvic-fin brooding to be controlled by different loci on different chromosomes. Genomic analyses of admixture detected no signatures of introgression between two lineages with pelvic-fin brooders, indicating that introgression is unlikely to be responsible for repeated evolution of pelvic-fin brooding. These findings suggest that multiple independent mutations may have contributed to the convergent evolution of this novel mode of reproduction.

• 頭顔部における硬組織および軟組織形態の共変化とその集団間差異2022 · 新学術領域研究(研究領域提案型)
• 顔面形態関連遺伝子多型の探索および人類学的応用2021 · 基盤研究(B)
• 琉球列島集団における遺伝的および言語的近縁性の比較2021 · 新学術領域研究(研究領域提案型)
• アジア太平洋地域におけるヒト皮膚形質の環境適応2020 · ヒトが拡散する過程で、新天地における紫外線量、温度、湿度といった物理環境およびそれに依存する微生物環境にヒトの皮膚は適応してきたと考えられる。皮膚で高発現するPOU2F3遺伝子においては、ネアンデルタール人由来のハプロタイプがアジア人において約66％の頻度で受け継がれていることが知られている。本研究では、POU2F3の一塩基多型（SNP）について皮膚形質との関連を解析した。同意を得た成人男女249人を対象とし、皮膚形質（皮膚の水分量、油分量、ポルフィリン量、皮膚色）の測定を行った。また、唾液からDNAを抽出し、POU2F3遺伝子領域の３ヶ所のSNP（rs17123792、rs744983、rs11217806）の遺伝子型を判定した。ここで、rs11217806がネアンデルタール由来のハプロタイプを示すタグSNP（祖先型がネアンデルタール由来）であり、rs17123792とrs744983における派生型アリルは、それぞれオセアニア地域およびヨーロッパ地域においての頻度が高いことが特徴的である。 結果として、オセアニア地域に多く分布するrs17123792の派生型アレルは額のポルフィリン量を少なくすることが示された。ポルフィリンは皮膚常在菌であるアクネ菌の分解産物であり、ポルフィリン量はアクネ菌の量を反映していると考えられる。また、rs744893においてヨーロッパに多くみられる派生型アレルは、額の水分量の低下と関連していた。このことから、POU2F3においてアジアで多くみられるハプロタイプは、ヨーロッパで多くみられるハプロタイプと比べ、皮膚の水分量を増加させる効果があることが示された。アジア人特異的な皮膚の特徴がネアンデルタール人からの遺伝子流入によって獲得されたことが示唆される。

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