Affiliation: Mount Sinai School of Medicine
- Analysis of the largest tandemly repeated DNA families in the human genomePeter E Warburton
Deptartment of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
BMC Genomics 9:533. 2008..Tandemly Repeated DNA represents a large portion of the human genome, and accounts for a significant amount of copy number variation. Here we present a genome wide analysis of the largest tandem repeats found in the human genome sequence...
- Neocentric X-chromosome in a girl with Turner-like syndromeMorteza Hemmat
Cytogenetics Dept, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
Mol Cytogenet 5:29. 2012..abstract:..
- Co-localization of CENP-C and CENP-H to discontinuous domains of CENP-A chromatin at human neocentromeresAlicia Alonso
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, New York 10029, USA
Genome Biol 8:R148. 2007..Neocentromeres permit detailed investigation of centromeric chromatin organization that is not possible in the highly repetitive alpha satellite DNA present at endogenous centromeres...
- Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigsMaria Francesca Cardone
Department of Genetics and Microbiology, University of Bari, Bari, Italy
Genome Biol 7:R91. 2006....
- A paucity of heterochromatin at functional human neocentromeresAlicia Alonso
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
Epigenetics Chromatin 3:6. 2010..Large domains of heterochromatin also do not appear necessary for centromere function. Thus, this study provides important insight into the structural requirements of human centromere function...
- Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromereP E Warburton
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, 10029, USA
Am J Hum Genet 66:1794-806. 2000..These neocentromeres will provide the means for testing hypotheses about sequence requirements for human centromere formation...
- Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genesPeter E Warburton
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Genome Res 14:1861-9. 2004..The prevalence of large highly homologous IRs containing testes genes on the X- and Y-chromosomes suggests a possible role in male germ-line gene expression and/or maintaining sequence integrity by gene conversion...
- Chromosomal dynamics of human neocentromere formationPeter E Warburton
Dept of Human Genetics, Box 1498, Mount Sinai School of Medicine, 1425 Madison Ave, East Bldg 14 52A, New York, NY 10029, USA
Chromosome Res 12:617-26. 2004....
- Epigenetic analysis of kinetochore assembly on variant human centromeresP E Warburton
Dept of Human Genetics, PO Box 1498, Mount Sinai School of Medicine, East Building 14 52A, 1425 Madison Ave, New York, NY 10029, USA
Trends Genet 17:243-7. 2001....
- Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeresAlicia Alonso
Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, 1425 Madison Ave, East Bldg 14 52A, New York, NY 10029, USA
Hum Mol Genet 12:2711-21. 2003..The screening of genomic microarrays with ChIP DNA provides a powerful method to identify mammalian DNA sequences associated with particular functional chromatin states...
- Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrumShulan Li
Department of Human Genetics Mount Sinai School of Medicine, New York, New York 10029, USA
Am J Med Genet 110:258-67. 2002..The complexity and variability of the phenotypes seen in these patients does not support a simple reductionist view of phenotype/genotype correlation with polysomy for certain chromosomal regions...
- Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?Brynn Levy
Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA
Genet Med 14:811-8. 2012....
- DNA modification and functional delivery into human cells using Escherichia coli DH10BKumaran Narayanan
Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, 1425 Madison Avenue, East Building 14 52A, New York, NY 10029, USA
Nucleic Acids Res 31:e51. 2003..coli DH10B will greatly improve the utility of the available BAC libraries from the human and other genomes for gene expression and functional genomic studies...
- Evolutionary history of mammalian transposons determined by genome-wide defragmentationJoti Giordano
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
PLoS Comput Biol 3:e137. 2007....
- Analysis of transposon interruptions suggests selection for L1 elements on the X chromosomeGyorgy Abrusan
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, Icahn Medical Institute, New York, New York, United States of America
PLoS Genet 4:e1000172. 2008..In addition, we show that TEs are less frequently interrupted in introns than in intergenic regions, probably due to selection against the expansion of introns, but the insertion pattern of Alus is comparable to other repeats...
- Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delayBrynn Levy
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
Am J Med Genet 108:198-204. 2002..In light of our experience, we urge caution in interpreting karyotypes with marker chromosomes. Our case illustrates the limitations of fluorescent DNA probes and sampling errors...
- The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expressionJacob L Mueller
Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
Nat Genet 40:794-9. 2008..Thus, not only is the mouse X chromosome enriched for spermatogenesis genes functioning before meiosis, but in addition, approximately 18% of mouse X-linked genes are expressed in postmeiotic cells...
- Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequenceJuliana Godoy Assumpção
Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas, Campinas, SP, Brazil
Am J Med Genet 113:263-7. 2002..Hybridization with CENP-A and CENP-C specific antibodies localized a neocentromere close to the breakpoint...
- Centromeric heterochromatin comes clean with DNA methylationPeter E Warburton
Nat Methods 1:14-5. 2004
- The repetitive DNA structure of the human genomePETER WARBURTON; Fiscal Year: 2009..The studies proposed in this application will facilitate both computational and biological approaches to genomics and provide a unique analysis of a large and relatively neglected portion of our DNA sequence. ..
- Repetitive DNA structure of the human genomePETER WARBURTON; Fiscal Year: 2007..The studies proposed in this application will facilitate both computational and biological approaches to genomics and provide a unique analysis of a large and relatively neglected portion of our DNA sequence. ..
- ANALYSIS OF HUMAN CHROMOSOME 13Q NEOCENTROMERE FORMATIONPETER WARBURTON; Fiscal Year: 2007..Investigation of human centromere structure, function and formation will greatly facilitate the construction of artificial human chromosomes for use as autonomous gene expression vectors. ..
- E coli-based vectors for BAC delivery to mammalian cellsPETER WARBURTON; Fiscal Year: 2007..It will provide novel gene delivery vectors, including HAC development, for gene expression, which will be valuable for development of gene therapy strategies for treatment of human genetic metabolic diseases and chronic diseases. ..
- A 13q32 BAC Microarray for chromosome function analysisPETER WARBURTON; Fiscal Year: 2004..The development of these types of high-density genomic microarrays will be a major step towards understanding the genomic organization and role of non-protein coding functional DNA elements in our cells. ..
- E. COLI BASED VECTORS FOR GENE DELIVERY TO HUMAN CELLSPETER WARBURTON; Fiscal Year: 2002..These studies propose to develop E. coli-based HAC vectors for human gene therapy that encompass novel approaches for gene delivery, accurate gene expression, and mitotic stability. ..
- ANALYSIS OF HUMAN CHROMOSOME 13Q NEOCENTROMERE FORMATIONPETER WARBURTON; Fiscal Year: 2001..In situ replication timing will permit assessment of the relative replication timing of specific genomic sequences at neocentromeres and on normal chromosomes. ..