Monoblastic sarcoma of the kidneys in an infant leukaemia

金沢大学医学部附属病院小児

Dense methylation of types 1 and 2 regulatory regions of the CD10 gene promoter in infant acute lymphoblastic leukemia with MLL/AF4 fusion gene

金沢大学医薬保健研究域Infant acute lymphoblastic leukemia (ALL) displays distinct biologic and clinical features with a poor prognosis. The CD10-negative immunophenotype of infant ALL is a hallmark and provides a predictable signature of mixed-lineage leukemia (MLL) rearrangement. Although CD10 negativity reflects an earlier stage of B-cell development, complete IgH gene rearrangements (VDJH), found in almost half of the patients, show more mature IgH status. Discordance between immunophenotype and genotype of infant ALL suggests an aberrant process in immunophenotypic steps of differentiation or a secondary down-regulation of CD10 expression. In this study, CD10-negative infant ALL with MLL/AF4, CD10-positive infant ALL with germline MLL, CD10-positive pre-B ALL cell line, infant acute myeloid leukemia (AML; M5) with MLL/AF9 and pediatric AML (M2) with AML1/ETO were analyzed for VDJH status and methylation of CD10 gene promoters. Three of the 4 infant ALL samples showed complete rearrangements of the VDJH gene with productive joints. Bisulfite sequencing of CD10 type 1 and 2 promoters showed that more than 84% of the cytosine-phosphate-guanine (CpG) dinucleotides identified were methylated in all 3 CD10-negative infant ALL samples with MLL/AF4. The CpG dinucleotides distributed in the clusters of putative Sp1-binding sites and functionally active regulatory regions of the promoters were fully methylated. In contrast, none of the CpG dinucleotides were methylated in the CD10-positive ALL samples. Structural evidence of dense methylation in the CD10 gene promoter suggested that methylated transcription factor binding sites contribute to CD10 silencing as an epigenetic mechanism. © 2010 by Lippincott Williams & Wilkins

Identification of a developmentally regulated gene in the mouse central nervous system which encodes a novel proline rich protein

A full length cDNA whose corresponding mRNA is down-regulated during the mouse embryonic brain development was isolated. The cDNA contains a single long open reading frame which could encode a protein with relative molecular mass of 41 kDa. The predicted gene product contains long stretches of prolines towards the NH2-terminus, followed by a leucine/proline rich region. The cDNA probe detected a number of mRNA species in Northern blot analysis. The reverse transcriptase-polymerase chain reaction analysis of mRNA from adult mouse tissues indicated that heart and testis expressed this gene (named NDPP-1) at relatively high levels, while lower levels of mRNA were detected in a number of other tissues. Expression of NDPP-1 was also detected in embryonic carcinoma and pheochromocytoma cell lines, but not in fibroblasts. The cDNA hybridized to genomic DNA from several vertebrates species in Southern blot analysis indicating interspecies conservation of this gene. The interesting pattern of expression of the NDPP-1 gene during mouse brain development and the structure of its putative protein product indicate that this gene may play an important biological role in the development of mouse central nervous system.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/29785/1/0000124.pd

Neonatal McCune-Albright Syndrome with Giant Cell Hepatitis

Embargo Period 12 month

RNA-binding protein ptbp1 regulates alternative splicing and transcriptome in spermatogonia and maintains spermatogenesis in concert with nanos3

Manami SENOO, Hiroshi HOZOJI, Yu ISHIKAWA-YAMAUCHI, Takashi TAKIJIRI, Sho OHTA, Tomoyo UKAI, Mio KABATA, Takuya YAMAMOTO, Yasuhiro YAMADA, Masahito IKAWA, Manabu OZAWA, RNA-binding protein Ptbp1 regulates alternative splicing and transcriptome in spermatogonia and maintains spermatogenesis in concert with Nanos3, Journal of Reproduction and Development, 2020, Volume 66, Issue 5, Pages 459-467, Released October 13, 2020, [Advance publication] Released July 06, 2020, Online ISSN 1348-4400, Print ISSN 0916-8818, https://doi.org/10.1262/jrd.2020-060, https://www.jstage.jst.go.jp/article/jrd/66/5/66_2020-060/_article/-char/e

Modification of single-nucleotide polymorphism in a fully humanized CYP3A mouse by genome editing technology

Abe, S., Kobayashi, K., Oji, A. et al. Modification of single-nucleotide polymorphism in a fully humanized CYP3A mouse by genome editing technology. Sci Rep 7, 15189 (2017). https://doi.org/10.1038/s41598-017-15033-

A High-Yielding Rice Cultivar “Takanari” Shows No N Constraints on CO2 Fertilization

Enhancing crop yield response to elevated CO2 concentrations (E-[CO2]) is an important adaptation measure to climate change. A high-yielding indica rice cultivar “Takanari” has recently been identified as a potential candidate for high productivity in E-[CO2] resulting from its large sink and source capacities. To fully utilize these traits, nitrogen should play a major role, but it is unknown how N levels influence the yield response of Takanari to E-[CO2]. We therefore compared grain yield and quality of Takanari with those of Koshihikari, a standard japonica cultivar, in response to Free-Air CO2 enrichment (FACE, +200 μmol mol−1) under three N levels (0, 8, and 12 g m−2) over three seasons. The biomass of both cultivars increased under E-[CO2] at all N levels; however, the harvest index decreased under E-[CO2] in the N-limited treatment for Koshihikari but not for Takanari. The decreased harvest index of Koshihikari resulted from limited enhancement of spikelet number under N-limitation. In contrast, spikelet number increased in E-[CO2] in Takanari even without N application, resulting in significant yield enhancement, averaging 18% over 3 years, whereas Koshihikari exhibited virtually no increase in yield in E-[CO2] under the N-limited condition. Grain appearance quality of Koshihikari was severely reduced by E-[CO2], most notably in N-limited and hot conditions, by a substantial increase in chalky grain, but chalky grain % did not increase in E-[CO2] even without N fertilizer. These results indicated that Takanari could retain its high yield advantage over Koshihikari with limited increase in chalkiness even under limited N conditions and that it could be a useful genetic resource for improving N use efficiency under E-[CO2]

Reactive peripheral blood plasmacytosis in a patient with acute hepatitis A

金沢大学附属病院小児科Reactive plasmacytosis is a transient expansion of plasma cell progenitors and precursors. This rare condition has been reported to occur mainly in infections and tumors. We describe a case of acute hepatitis A presenting with marked peripheral blood plasmacytosis. Plasma cells made up 27.5% of the mononuclear cells and had the immunophenotype CD10-CD19 +CD20-CD21-CD23-CD34 -CD38++HLA-DR+. Although the level of interleukin 6 was not increased, the presence of activated T-cells with an inverted CD4/CD8 ratio and high levels of soluble interleukin 2 receptor and neopterin indicated a marked immune response to acute hepatitis A. The patient\u27s plasma cells had almost disappeared from the blood by hospital day 16. This report may represent the first described case of reactive peripheral blood plasmacytosis in acute hepatitis A. © 2007 The Japanese Society of Hematology

Arthroscopic, histological and MRI analyses of cartilage repair after a minimally invasive method of transplantation of allogeneic synovial mesenchymal stromal cells into cartilage defects in pigs

AbstractBackground aimsTransplantation of synovial mesenchymal stromal cells (MSCs) may induce repair of cartilage defects. We transplanted synovial MSCs into cartilage defects using a simple method and investigated its usefulness and repair process in a pig modelMethodsThe chondrogenic potential of the porcine MSCs was compared in vitro. Cartilage defects were created in both knees of seven pigs, and divided into MSCs treated and non-treated control knees. Synovial MSCs were injected into the defect, and the knee was kept immobilized for 10min before wound closure. To visualize the actual delivery and adhesion of the cells, fluorescence-labeled synovial MSCs from transgenic green fluorescent protein (GFP) pig were injected into the defect in a subgroup of two pigs. In these two animals, the wounds were closed before MSCs were injected and observed for 10min under arthroscopic control. The defects were analyzed sequentially arthroscopically, histologically and by magnetic resonance imaging (MRI) for 3 monthsResultsSynovial MSCs had a higher chondrogenic potential in vitro than the other MSCs examined. Arthroscopic observations showed adhesion of synovial MSCs and membrane formation on the cartilage defects before cartilage repair. Quantification analyses for arthroscopy, histology and MRI revealed a better outcome in the MSC-treated knees than in the non-treated control kneesConclusionsLeaving a synovial MSC suspension in cartilage defects for 10min made it possible for cells to adhere in the defect in a porcine cartilage defect model. The cartilage defect was first covered with membrane, then the cartilage matrix emerged after transplantation of synovial MSCs