研究者詳細 - 辻　岳人

論文 - 辻　岳人

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White coat color in Vietnamese native buffalo is attributed to the LINE1 insertion in ASIP

Thuy Thanh Nguyen, Quan Viet Le, Van Huu Nguyen, Hai Thanh Duong, Takehito Tsuji

Tropical Animal Health and Production 57 ( 2 ) 2025年2月

掲載種別：研究論文（学術雑誌）出版者・発行元：Springer Science and Business Media LLC

Abstract

The coat color of the swamp buffalo is commonly dark gray, while the white coat color variant, which may have potential heat stress advantages, is also present in some Asian countries, including Vietnam. This study analyzed the most likely candidate genes, ASIP and TYR, responsible for the white coat color of Vietnamese native buffaloes. We found that LINE1 insertion in ASIP, a mutation previously reported in white swamp buffalo from other Asian countries, was exclusively found in white Vietnamese buffalo. Moreover, significantly higher expression of ASIP was confirmed in the hair follicles of white buffalo. On the other hand, no variants associated with the white phenotype were found in TYR. These findings indicate that the LINE1 insertion in ASIP is responsible for the white coat color in Vietnamese native buffalo, and that provides a crucial step towards their utilization and improved productivity in Vietnam.

DOI： 10.1007/s11250-025-04309-7

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その他リンク： https://link.springer.com/article/10.1007/s11250-025-04309-7/fulltext.html

Investigation of SNPs associated with reproductive and body growth traits in Vietnamese and Nepalese native buffaloes

Nguyen Thuy Thanh, Tetsuo Kunieda, Shah Manoj Kumar, Le Thu Nu Anh, Nguyen Van Huu, Koichiro Ushijima, Mayuko Nagae, Takehito Tsuji

The Journal of Animal Genetics 53 ( 1 ) 3 - 3 2025年1月

Association of a non-synonymous variant of MLH3 gene involved in meiotic recombination with conception rate of Japanese Black cattle

Thu Nu Anh Le, Trung Ba Nguyen, Takehito Tsuji, Takayuki Ibi, Shinji Sasaki, Tetsuo Kunieda

Animal Production Science 64 ( 17 ) 2024年11月

掲載種別：研究論文（学術雑誌）出版者・発行元：CSIRO Publishing

Context Conception rate, which is an important parameter to evaluate female fertility, has been gradually decreasing in Japanese Black cattle during the past decades. Meiosis is an essential biological process in gamete formation and meiotic failure could be a cause of infertility or reduced fertility in mammals. Of note, single nucleotide polymorphisms (SNPs) in the MLH3 gene involved in meiotic recombination were reported to affect the genome-wide recombination rate of meiosis in cattle. Aims The present study was conducted to investigate the association of SNPs in the MLH3 gene with conception rate in Japanese Black cattle. Methods On the basis of the reproductive data of 2045 Japanese Black cattle born from 1990 to 2009, we selected two groups of the reproductive females with high conception rate (n = 103) and low conception rate (n = 109). Then, we genotyped the SNPs in MLH3 gene in both reproductive groups by sequencing and polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). The significant association of SNPs with conception rate in Japanese Black cattle was estimated by Fisher’s exact test, by using R commander. Key results We found the presence of five SNPs of MLH3 gene in Japanese Black cattle, including non-synonymous variants of MLH3 N408S that has been reported to be involved in meiotic recombination rate and MLH3 S591G newly identified in the present study. Comparison of genotype distributions and allele frequencies of the MLH3 N408S between high and low conception-rate groups indicated a significant difference between these groups, suggesting that this SNP is associated with conception rate. However, there is no significant difference between MLH3 S591G with conception rate in Japanese Black cattle. Conclusions We found a significant association between a non-synonymous variant of MLH3 N408S and conception rate, suggesting that this SNP can be a potential marker for selecting the Japanese Black cattle for improving fertility. We also identified a novel non-synonymous variant of MLH3 S591G in Japanese Black cattle. Implications These findings will be informative for future marker-assisted selection to improve the fertility of Japanese Black cattle. This is the first report of a genetic variant implicated in meiotic recombination being linked to female fertility in cattle.

DOI： 10.1071/an23418

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A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle. 国際誌

Yuka Iwanaga, Kaori Tsuji, Ayaka Nishimura, Kouji Tateishi, Misa Kakiuchi, Takehito Tsuji

Mammalian genome : official journal of the International Mammalian Genome Society 34 ( 4 ) 559 - 571 2023年12月

記述言語：英語掲載種別：研究論文（学術雑誌）

The spontaneous mutation stubby (stb) in mice causes chondrodysplasia and male infertility due to impotence through autosomal recessive inheritance. In this study, we conducted linkage analysis to localize the stb locus within a 1.6 Mb region on mouse chromosome 2 and identified a nonsense mutation in Adamtsl2 of stb/stb mice. Histological analysis revealed disturbed endochondral ossification with a reduced hypertrophic chondrocyte layer and stiff skin with a thickened dermal layer. These phenotypes are similar to those observed in humans and mice with ADAMTSL2/Adamtsl2 mutations. Moreover, stb/stb female mice exhibited severe uterine hypoplasia at 5 weeks of age and irregular estrous cycles at 10 weeks of age. In normal mice, Adamtsl2 was more highly expressed in the ovary and pituitary gland than in the uterus, and this expression was decreased in stb/stb mice. These findings suggest that Adamtsl2 may function in these organs rather than in the uterus. Thus, we analyzed Gh expression in the pituitary gland and plasma estradiol and IGF1 levels, which are required for the development of the female reproductive tract. There was no significant difference in Gh expression and estradiol levels, whereas IGF1 levels in stb/stb mice were significantly reduced to 54-59% of those in +/+ mice. We conclude that Adamtsl2 is required for the development of the uterus and regulation of the estrous cycle in female mice, and decreased IGF1 may be related to these abnormalities.

DOI： 10.1007/s00335-023-10016-1

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Genetic variants of RNF212 involved in meiotic recombination rate and its relation with conception rate in Japanese Black cattle

Thu Nu Anh LE, Trung Ba NGUYEN, Ripon Chandra PAUL, Yu OKUDA, Takehito TSUJI, Takayuki IBI, Shinji SASAKI, Tetsuo KUNIEDA

The Journal of Animal Genetics 49 ( 1 ) 13 - 17 2021年

Genetic characterization of Kushum horses in Kazakhstan based on haplotypes of mtDNA and Y chromosome, and genes associated with important traits of the horses

Trung B. NGUYEN, Ripon C. PAUL, Yu OKUDA, Thu N. A. LE, Phuong T. K. PHAM, Kushaliye J. KAISSAR, Akhmedenov KAZHMURAT, Sarsenova BIBIGUL, Meirat BAKHTIN, Polat KAZYMBET, Suleimenov Zh MARATBEK, Alikhan MELDEBEKOV, Masahide NISHIBORI, Takayuki IBI, Takehito TSUJI, Tetsuo KUNIEDA

Journal of Equine Science 31 ( 3 ) 35 - 43 2020年

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Japan Society of Equine Science

The Kushum is a relatively new breed of horses in Kazakhstan that was established in the middle of the 20th century through a cross between mares of Kazakhstan local horses and stallions of Thoroughbred, Trotter, and Russian Don breeds to supply military horses. To reveal the genetic characteristics of this breed, we investigated haplotypes of mitochondrial DNA (mtDNA) and single-nucleotide polymorphisms of the Y chromosome, as well as genotypes of five functional genes associated with coat color, body composition, and locomotion traits. We detected 10 mtDNA haplotypes that fell into 8 of the 17 major haplogroups of horse mtDNA, indicating a unique haplotype composition with high genetic diversity. We also found two Y-chromosomal haplotypes in Kushum horses, which likely originated from Trotter and/or Don breeds. The findings regarding the mtDNA and Y-chromosomal haplotypes are concordant with the documented maternal and paternal origins of the Kushum horses. The allele frequencies of ASIP, MC1R, and MATP associated with coat color were consistent with the coat color variations of Kushum horses. The allele frequencies of MSTN associated with endurance performance and those of DMRT3 associated with gait suggested that the observed allele frequencies of these genes were the result of selective breeding for these traits. As a result of this study, we were able to obtain useful information for a better understanding of the origin and breeding history of the Kushum horse breed using molecular markers.

DOI： 10.1294/jes.31.35

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A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice. 査読

Akiyama K, Noguchi J, Hirose M, Kajita S, Katayama K, Khalaj M, Tsuji T, Fairfield H, Byers C, Reinholdt L, Ogura A, Kunieda T

The Journal of biological chemistry 288 ( 44 ) 31830 - 31841 2013年11月

酵母ツーハイブリッド法を用いた TMEM48と結合する精巣タンパク質のスクリーニング

梶田晋平, 秋山耕陽, 辻岳人, 国枝哲夫

動物遺伝育種研究 41 ( 2 ) 77 - 86 2013年

記述言語：日本語出版者・発行元：Japanese Society of Animal Breeding and Genetics

Tmem48は、配偶子形成および中軸骨格に異常を呈するミュータントマウスであるsksマウスの原因となる、核膜孔複合体を構成する核膜タンパク質の遺伝子である。sksマウスでは、Tmem48に生じた塩基置換により、本遺伝子が機能しなくなることにより、減数分裂が正常に進行せずに精子形成に顕著な異常を生じることから、TMEM48を介した核膜孔複合体の機能はほ乳類の配偶子形成に不可欠であることが示唆されている。そこで本研究では、酵母ツーハイブリッド法を用いて、マウス精巣で発現しているタンパク質の中から、TMEM48と結合する可能性のあるタンパク質を同定することで、ほ乳類の配偶子形成に重要な役割を持つ可能性のあるタンパク質を同定することを試みた。スクリーニングの結果、精巣で発現し、TMEM48と相互作用することが示唆される計31のタンパク質の遺伝子が同定された。これらの遺伝子のマウスの各種臓器での発現を調べたところ、Dynll2、Pabpc2、Spink2、Txnl4bが精巣特異的に発現していることが確認された。さらに、生後最初にすべての精細管で同調した精子形成が進行するファーストウェーブ精子形成の各時期におけるこれらの遺伝子の発現を調べたところ、これらの遺伝子はそれぞれ、精子形成過程での減数分裂の特異的な時期に発現してことが明らかとなった。以上のことから、これらの遺伝子のタンパク質は、生殖細胞内においてTMEM48と相互作用し、ほ乳類の配偶子形成過程に重要な役割を果たしている可能性が示唆された。

DOI： 10.5924/abgri.41.77

CiNii Article

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卵母細胞の減数分裂制御機構におけるC型ナトリウム利尿ペプチドの役割

辻岳人, 清須千代, 秋山耕陽, 国枝哲夫

日本繁殖生物学会講演要旨集 106 P - 75-P-75 2013年

記述言語：日本語出版者・発行元：日本繁殖生物学会

【目的】卵巣内の卵母細胞は減数分裂第一分裂前期の状態を維持し，LHサージにより再開する。C型ナトリウム利尿ペプチド(CNP)は，受容体(NPR2)により合成されたcGMPを介して減数分裂の停止維持に関わることが後期胞状卵胞でのみ報告されている。本研究では，CNPシグナルによる減数分裂抑制効果がより早期卵胞で機能しているか調べ，さらに，LHによる減数分裂再開への関与についても解析をおこなった。【方法】 1．Npr2遺伝子に機能欠失型の突然変異をもつマウスについて，25日齢の卵巣切片を作成し，卵母細胞における核の状態を観察した。2．25日齢の正常マウスとPMSG，hCGを投与した正常マウス卵巣におけるCNP (Nppc) 遺伝子および受容体(Npr2)遺伝子の発現パターンを解析した。3．正常マウス卵巣より単離した顆粒膜細胞を培養し，アンフィレギュリンおよびEGFレプター阻害剤によるNppc遺伝子の発現量への影響を解析した。【結果】 Npr2遺伝子に変異をもつマウスの卵巣では，前胞状卵胞までの卵母細胞は正常マウスと同様にGV期であったが，初期胞状卵胞以降の半数以上の卵母細胞では染色体が観察され，減数分裂が異常に再開していた。初期胞状卵胞では卵胞外側および卵母細胞周囲の顆粒膜細胞にNppcおよびNpr2遺伝子はそれぞれ発現し，PMSG投与48時間後の胞状卵胞では，顆粒膜細胞と卵丘細胞において発現していた。また，Nppc遺伝子の発現はhCG投与後に顕著に減少した。培養顆粒膜細胞では，Nppc遺伝子の発現量はアンフィレギュリン添加により減少し，EGFレセプター阻害剤の前処理により発現量の低下は認められなかった。以上の結果より，CNP/NPR2シグナルは，胞状卵胞期以降の卵母細胞の減数分裂の停止維持に関わる体細胞由来の必須因子であることが示された。また，LHサージによる減数分裂再開には，CNPによる減数分裂停止維持効果の低下が関与している可能性が示された。

DOI： 10.14882/jrds.106.0.P-75.0

CiNii Article

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Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle. 査読

Masoudi AA, Yamato O, Yoneda K, Tsuji T, Mikami O, Kunieda T

Animal science journal = Nihon chikusan Gakkaiho 80 ( 5 ) 611 - 615 2009年10月

Characterization and linkage mapping of an ENU-induced mutant mouse with defective spermatogenesis. 査読

Asano Y, Akiyama K, Tsuji T, Takahashi S, Noguchi J, Kunieda T

Experimental animals 58 ( 5 ) 525 - 532 2009年10月

記述言語：英語出版者・発行元：Japanese Association for Laboratory Animal Science

repro23 is an autosomal recessive mutation of the mouse generated by the N-ethyl-N-nitrosourea (ENU)-induced mutagenesis program at The Jackson Laboratory. The repro23/repro23 homozygous mouse shows male-specific infertility caused by defective spermatogenesis. In the present study, we investigated the testicular pathology of the affected mouse and performed linkage analysis to determine the chromosomal localization of the repro23 locus. Histological examination of the affected testis showed that the seminiferous epithelium of the repro23/repro23 mice contained spermatogonia and early stage spermatocytes, but no spermatids or spermatozoa. Immunohistochemical staining for Hsc70t, a spermatid specific protein, confirmed the absence of elongating spermatids. These findings indicated interruption of the spermatogenesis during meiosis in the repro23/repro23 mouse. By linkage analysis using 137 affected mice of F₂ progeny obtained from crosses between repro23/repro23 female and JF1/Ms (+/+) male mice, the repro23 locus was mapped to 2.2-Mb region of mouse chromosome 7. Although this region contains several potential candidate genes for the repro23 mutation, no gene already identified as a cause of defective speramatogenesis was in this region. Therefore, the gene responsible for the repro23 mutation is suggested to be a novel gene which plays an essential role in mammalian spermatogenesis.<br>

DOI： 10.1538/expanim.58.525

その他リンク： https://jlc.jst.go.jp/DN/JALC/00340059676?from=CiNii

Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities. 査読

Katayama K, Miyamoto S, Furuno A, Akiyama K, Takahashi S, Suzuki H, Tsuji T, Kunieda T

BMC genetics 10 60 2009年9月

Polymerase chain reaction-restriction fragment length polymorphism method for identifying carriers of hemophilia A in Japanese brown cattle 査読

Maryam Khalaj, Abdol Rahim Abbasi, Takehito Tsuji, Yasuo Moritomo, Kenichi Shimojo, Tetsuo Kunieda

Animal Science Journal 77 ( 1 ) 122 - 125 2006年2月

FKBP6 deficiency in rats disorders homologous chromosome pairing, but not sex chromosome inactivation.

J Noguchi, T Tsuji, NWK Karja, M Fahrudin, M Ozawa, K Ohnuma, K Kikuchi, H Kaneko, T Kunieda

BIOLOGY OF REPRODUCTION 162 - 162 2005年

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