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Terumasa Chiba, Yoshinori Otani, Yoshihide Yamaguchi, Tomoko Ishibashi, Akiko Hayashi, Kenji F Tanaka, Maya Yamazaki, Kenji Sakimura, Hiroko Baba
Phospholipase D4 (PLD4) is expressed in activated microglia that transiently appear in white matter during postnatal brain development. Previous knockdown experiments using cultured microglia showed PLD4 involvement in phagocytosis and proliferation. To elucidate the role of PLD4 in vivo, PLD4-deficient mice were generated and the cerebella were examined at postnatal day 5 (P5) and P7, when PLD4 expression is highest in microglia. Wild type microglia showed strong immunoreactivity for microglial marker CD68 at P5, whereas CD68 signals were weak in PLD4-deficient microglia, suggesting that loss of PLD4 affects microglial activation...
2016: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
Jingxiao Jin, Chou Chou, Maria Lima, Danielle Zhou, Xiaodong Zhou
Systemic sclerosis (SSc) is a fibrotic and autoimmune disease characterized clinically by skin and internal organ fibrosis and vascular damage, and serologically by the presence of circulating autoantibodies. Although etiopathogenesis is not yet well understood, the results of numerous genetic association studies support genetic contributions as an important factor to SSc. In this paper, the major genes of SSc are reviewed. The most recent genome-wide association studies (GWAS) are taken into account along with robust candidate gene studies...
2014: Open Rheumatology Journal
Simone Jung, Hubert Pausch, Martin C Langenmayer, Hermann Schwarzenbacher, Monir Majzoub-Altweck, Nicole S Gollnick, Ruedi Fries
BACKGROUND: Bovine hereditary zinc deficiency (BHZD) is an autosomal recessive disorder of cattle, first described in Holstein-Friesian animals. Affected calves suffer from severe skin lesions and show a poor general health status. Recently, eight calves with the phenotypic appearance of BHZD have been reported in the Fleckvieh cattle population. RESULTS: In spite of the similar disease phenotypes, SLC39A4, the gene responsible for BHZD in Holstein-Friesian was excluded as underlying gene for the disorder in the affected Fleckvieh calves...
2014: BMC Genomics
Taku Suzuki, Katsunori Ikari, Koichiro Yano, Eisuke Inoue, Yoshiaki Toyama, Atsuo Taniguchi, Hisashi Yamanaka, Shigeki Momohara
INTRODUCTION: Rheumatoid arthritis (RA) is a systemic, chronic inflammatory disease influenced by both genetic and environmental factors, leading to joint destruction and functional impairment. Recently, a large-scaled GWAS meta-analysis using more than 37,000 Japanese samples were conducted and 13 RA susceptibility loci were identified. However, it is not clear whether these loci have significant impact on joint destruction or not. This is the first study focused on the 13 loci to investigate independent genetic risk factors for radiographic progression in the first five years from onset of RA...
2013: PloS One
Chikashi Terao, Koichiro Ohmura, Yasushi Kawaguchi, Tetsuya Nishimoto, Aya Kawasaki, Kazuhiko Takehara, Hiroshi Furukawa, Yuta Kochi, Yuko Ota, Katsunori Ikari, Shinichi Sato, Shigeto Tohma, Ryo Yamada, Kazuhiko Yamamoto, Michiaki Kubo, Hisashi Yamanaka, Masataka Kuwana, Naoyuki Tsuchiya, Fumihiko Matsuda, Tsuneyo Mimori
OBJECTIVE: Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome-wide association studies have shown that large numbers of susceptibility genes are shared among autoimmune diseases. Recently, our group identified 9 novel susceptibility genes associated with rheumatoid arthritis (RA) in a Japanese population. The aim of this study was to elucidate whether the 18 genes that displayed associations or suggestive associations for RA in our previous study are associated with SSc in Japanese...
February 2013: Arthritis and Rheumatism
Yukinori Okada, Chikashi Terao, Katsunori Ikari, Yuta Kochi, Koichiro Ohmura, Akari Suzuki, Takahisa Kawaguchi, Eli A Stahl, Fina A S Kurreeman, Nao Nishida, Hiroko Ohmiya, Keiko Myouzen, Meiko Takahashi, Tetsuji Sawada, Yuichi Nishioka, Masao Yukioka, Tsukasa Matsubara, Shigeyuki Wakitani, Ryota Teshima, Shigeto Tohma, Kiyoshi Takasugi, Kota Shimada, Akira Murasawa, Shigeru Honjo, Keitaro Matsuo, Hideo Tanaka, Kazuo Tajima, Taku Suzuki, Takuji Iwamoto, Yoshiya Kawamura, Hisashi Tanii, Yuji Okazaki, Tsukasa Sasaki, Peter K Gregersen, Leonid Padyukov, Jane Worthington, Katherine A Siminovitch, Mark Lathrop, Atsuo Taniguchi, Atsushi Takahashi, Katsushi Tokunaga, Michiaki Kubo, Yusuke Nakamura, Naoyuki Kamatani, Tsuneyo Mimori, Robert M Plenge, Hisashi Yamanaka, Shigeki Momohara, Ryo Yamada, Fumihiko Matsuda, Kazuhiko Yamamoto
Rheumatoid arthritis is a common autoimmune disease characterized by chronic inflammation. We report a meta-analysis of genome-wide association studies (GWAS) in a Japanese population including 4,074 individuals with rheumatoid arthritis (cases) and 16,891 controls, followed by a replication in 5,277 rheumatoid arthritis cases and 21,684 controls. Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 × 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2...
May 2012: Nature Genetics
Yoshinori Otani, Yoshihide Yamaguchi, Yumi Sato, Teiichi Furuichi, Kazuhiro Ikenaka, Hiroshi Kitani, Hiroko Baba
Phospholipase D4 (PLD4) is a recently identified protein that is mainly expressed in the ionized calcium binding adapter molecule 1 (Iba1)-positive microglia in the early postnatal mouse cerebellar white matter. Unlike PLD1 and PLD2, PLD4 exhibits no enzymatic activity for conversion of phosphatidylcholine into choline and phosphatidic acid, and its function is completely unknown. In the present study, we examined the distribution of PLD4 in mouse cerebellar white matter during development and under pathological conditions...
2011: PloS One
Fumio Yoshikawa, Yoshiko Banno, Yoshinori Otani, Yoshihide Yamaguchi, Yuko Nagakura-Takagi, Noriyuki Morita, Yumi Sato, Chihiro Saruta, Hirozumi Nishibe, Tetsushi Sadakata, Yo Shinoda, Kanehiro Hayashi, Yuriko Mishima, Hiroko Baba, Teiichi Furuichi
BACKGROUND: Phospholipase D (PLD) catalyzes conversion of phosphatidylcholine into choline and phosphatidic acid, leading to a variety of intracellular signal transduction events. Two classical PLDs, PLD1 and PLD2, contain phosphatidylinositide-binding PX and PH domains and two conserved His-x-Lys-(x)(4)-Asp (HKD) motifs, which are critical for PLD activity. PLD4 officially belongs to the PLD family, because it possesses two HKD motifs. However, it lacks PX and PH domains and has a putative transmembrane domain instead...
2010: PloS One
O N Rudchenko
The effect of resident plasmid pLD4, a derivative of plasmid Hly241, on transformability of the host bacteria cells has been studied. Plasmid pLD4 was transferred into the different strains of E. coli subsequently transformed by the DNA of plasmids pBR322, pBR325, pAL-R2, pMB9. The majority of strains harbouring pLD4 obtain the increased ability to be transformed as compared with the ability of isogenic plasmidless strains. The similar but less expressed effect was conferred by the plasmid Hly241. Another hemolytic plasmid Hly195 and its derivatives, carrying the different transposons, as well as plasmid F' tet Hly did not increase the transformability of host bacteria...
May 1985: Molekuliarnaia Genetika, Mikrobiologiia i Virusologiia
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