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Open Access Publications from the University of California

Scholarly Works (4 results)

  • Article
  • Peer Reviewed
UCLA Previously Published Works (2009)
Zebrafish teeth develop on pharyngeal jaws in the 5th branchial arch, but early tooth development is remarkably similar to mammals (Borday-Birraux et al., Evol Dev 8:130, 2006). Recently, eve1 has been shown to be associated with the primary tooth (4V1) and early ameloblast development, the enamel organ precursor (Laurenti et al., Dev Dyn 230:727, 2004). dax1 is initially expressed in the 5th branchial arch in zebrafish at approximately 26 h postfertilization (hpf) and colocalizes with eve1 expression at ~48 hpf. Embryos injected with dax1 morpholino show downregulation of eve1 expression. Based on the zebrafish observations, we demonstrated novel DAX1 expression in normal human dental, benign ameloblastoma, and malignant ameloblastoma tissues. The association of NR0B1 and its protein product DAX1 with primary tooth development and ameloblastoma tumorigenesis is an association not previously described.
    Cover page: The expression of nr0b1, the earliest gene in zebrafish tooth development, is a marker for human tooth and ameloblastoma formation
    • Article
    • Peer Reviewed
    UCLA Previously Published Works (2007)

    Infantile or complex glycerol kinase deficiency (cGKD) is a contiguous gene deletion syndrome caused by a loss of GK (MIM# 300474), along with its neighboring genes, Duchenne muscular dystrophy (DMD; MIM# 300377) and/or Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1; MIM# 300473). Patients with cGKD present with glyceroluria and hyperglycerolemia in association with DMD and/or adrenal hypoplasia congenita (AHC). The purpose of these investigations was to determine whether the Affymetrix GeneChip Mapping Array (SNP chip) could be utilized to detect and map breakpoints in patients with cGKD. Genomic DNAs from several primary lymphoblastoid cell lines from patients with cGKD were analyzed on the Affymetrix platform. The Affymetrix SNP chip is a high-density oligonucleotide array that allows a standardized, parallel interrogation of thousands of SNPs across the entire genome (except for the Y chromosome). Analysis of the array features' hybridization intensities enabled clear delineation of the patient deletions with a high degree of confidence. Many of these patient deletions had been mapped by PCR and their breakpoints confirmed by sequencing. This study demonstrates the utility of the Affymetrix Mapping GeneChips for molecular cytogenetic analysis, beyond the SNP genotyping for which the arrays were initially designed. With one out of 160 live births (approximately 25,000 U.S. neonates annually) reported to have cytogenetic disorders, we envision a significant need for such a standardized platform to carry out rapid, high-throughput, genomic analyses for molecular cytogenetics applications.

      Cover page: Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
      • Article
      • Peer Reviewed
      UC Berkeley Previously Published Works (2007)

      This paper reports on cell and microparticle manipulation using optically induced dielectrophoresis. Our novel optoelectronic tweezers (OET) device enables optically controlled trapping, transportation, and sorting via dielectrophoretic forces. By integrating a spatial light modulator and using direct imaging, arbitrary dynamic manipulation patterns are obtained. Here, we demonstrate manipulation functions, including particle collectors, single-particle traps, individually addressable single-particle arrays, light-defined particle channels, and size-based particle sorting. OET-induced particle manipulation velocities are analyzed as a function of the applied voltage, optical pattern linewidth, and single-particle trap dimensions.

        Cover page: Dynamic cell and microparticle control via optoelectronic tweezers
        • Article
        • Peer Reviewed
        UC Irvine Previously Published Works (2013)

        Objective

        Barth syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal mitochondria, variably expressed skeletal myopathy, and growth delay. The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28. We report a novel exonic splicing mutation in the TAZ gene in a patient with atypical Barth syndrome.

        Patient & methods

        The 4-month-old proband presented with respiratory distress, neutropenia, and dilated cardiomyopathy with reduced ejection fraction of 10%. No 3-methylglutaconic aciduria was detected on repeated urine organic acid analyses. Family history indicated that his maternal uncle died of endocardial fibroelastosis and dilated cardiomyopathy at 26 months. TAZ DNA sequencing, mRNA analysis, and cardiolipin analysis were performed.

        Results

        A novel nucleotide substitution c.553A>G in exon 7 of the TAZ gene was identified in the proband, predicting an amino acid substitution p.Met185Val. However, this mutation created a new splice donor signal within exon 7 causing mis-splicing of the message, producing two messages that only differ in the presence/absence of exon 5; these retain intron 6 and have only 11 bases of exon 7. Cardiolipin analysis confirmed the loss of tafazzin activity. The proband's mother, maternal aunt, and grandmother carry the same mutation.

        Conclusions

        The identification of a TAZ gene mutation, mRNA analysis, and monolysocardiolipin/cardiolipin ratio determination were important for the diagnosis and genetic counseling in this family with atypical Barth syndrome that was not found to be associated with 3-methylglutaconic aciduria.
          Cover page: A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.Creative Commons 'BY' version 4.0 license
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