Atsuko Fujimoto

Publications (2)10.14 Total impact

• Article: The cell adhesion gene PVRL3 is associated with congenital ocular defects.

  Salil A Lachke, Anne W Higgins, Maiko Inagaki, Irfan Saadi, Qiongchao Xi, Michelle Long, Bradley J Quade, Michael E Talkowski, James F Gusella, Atsuko Fujimoto, Michael L Robinson, Ying Yang, Quynh T Duong, Irit Shapira, Benny Motro, Jun Miyoshi, Yoshimi Takai, Cynthia C Morton, Richard L Maas
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  ABSTRACT: We describe a male patient (patient DGAP113) with a balanced translocation, 46,XY,t(1;3)(q31.3;q13.13), severe bilateral congenital cataracts, CNS abnormalities and mild developmental delay. Fluorescence in situ hybridization (FISH) and suppression PCR demonstrated that the chromosome 3 breakpoint lies ~515 kb upstream of the PVRL3 gene, while the chromosome 1 breakpoint lies ~50 kb upstream of the NEK7 gene. Despite the fact that NEK7 is closer to a translocation breakpoint than PVRL3, NEK7 transcript levels are unaltered in patient DGAP113 lymphoblastoid cells and Nek7-deficient mice exhibit no detectable ocular phenotype. In contrast, the expression of PVRL3, which encodes the cell adhesion protein Nectin 3, is significantly reduced in patient DGAP113 lymphoblastoid cells, likely due to a position effect caused by the chromosomal translocation. Nectin 3 is expressed in the mouse embryonic ciliary body and lens. Moreover, Pvrl3 knockout mice as well as a spontaneous mouse mutant ari (anterior retinal inversion), that maps to the Pvrl3 locus, exhibit lens and other ocular defects involving the ciliary body. Collectively, these data identify PVRL3 as a critical gene involved in a Nectin-mediated cell-cell adhesion mechanism in human ocular development.
  Human Genetics 07/2011; 131(2):235-50. · 5.07 Impact Factor
• Article: Delineation of complex chromosomal rearrangements: evidence for increased complexity.

  Caroline Astbury, Laurie A Christ, David J Aughton, Suzanne B Cassidy, Atsuko Fujimoto, Beth A Pletcher, Irwin A Schafer, Stuart Schwartz
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  ABSTRACT: There is an assumption of parsimony with regard to the number of chromosomes involved in rearrangements and to the number of breaks within those chromosomes. Highly complex chromosome rearrangements are thought to be relatively rare, with the risk for phenotypic abnormalities increasing as the number of chromosomes and chromosomal breaks involved in the rearrangement increases. We report here five cases of de novo complex chromosome rearrangements, each with a minimum of four breaks. Deletions were found in four cases, and in at least one case, a number of genes or potential genes might have been disrupted. This study highlights the importance of the detailed delineation of complex rearrangements, beginning with high-resolution chromosome analysis, and emphasizes the utility of fluorescence in situ hybridization in combination with the data available from the Human Genome Project as a means to delineate such rearrangements.
  Human Genetics 05/2004; 114(5):448-57. · 5.07 Impact Factor