A5052157897- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genomics and Phylogenetic Studies
- Advanced biosensing and bioanalysis techniques
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Animal Genetics and Reproduction
- Regulation of Appetite and Obesity
- Gestational Trophoblastic Disease Studies
- Adipose Tissue and Metabolism
- Biomedical and Engineering Education
- Fetal and Pediatric Neurological Disorders
- Congenital Anomalies and Fetal Surgery
- Skin and Cellular Biology Research
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Cancer-related gene regulation
- Multiple Myeloma Research and Treatments
- Adipokines, Inflammation, and Metabolic Diseases
- Tea Polyphenols and Effects
University of Utah
2025
ARUP Laboratories (United States)
2025
Triangle
2017-2018
LabCorp (United States)
2017-2018
Emory University
2007-2017
Duke University
2003-2012
Fred Hutch Cancer Center
2006-2008
Case Western Reserve University
2001-2005
Center for Human Genetics
2001-2004
University School
2003-2004
The definition of centromeres human chromosomes requires a complete genomic understanding these regions. Toward this end, we report integration physical mapping, genetic, and functional approaches, together with sequencing selected regions, to define the centromere X chromosome explore evolution sequences responsible for segregation. transitional region between expressed on short arm chromosome-specific alpha satellite array DXZ1 spans about 450 kilobases is satellite-rich. At junction...
Covalent modification of DNA distinguishes cellular identities and is crucial for regulating the pluripotency differentiation embryonic stem (ES) cells. The recent demonstration that 5-methylcytosine (5-mC) may be further modified to 5-hydroxymethylcytosine (5-hmC) in ES cells has revealed a novel regulatory paradigm modulate epigenetic landscape pluripotency. To understand role 5-hmC epigenomic pluripotent cells, here we profile genome-wide distribution correlate it with genomic profiles 11...
Human centromeres are specialized chromatin domains containing the centromeric histone H3 variant CENP-A. CENP-A nucleosomes interspersed with dimethylated at lysine 4, distinguishing (CEN chromatin) from flanking heterochromatin that is defined by 9 methylation. To understand relationship between organization and genomic structure of human centromeres, we compared molecular profiles three endogenous uninterrupted higher-order α-satellite DNA, artificial chromosomes contain discontinuous...
α-Satellite is a family of tandemly repeated sequences found at all normal human centromeres. In addition to its significance for understanding centromere function, α-satellite also model concerted evolution, as repeats are more similar within species than between species. There two types in the genome; while both made up ∼171-bp monomers, they can be distinguished by whether monomers arranged extremely homogeneous higher-order, multimeric repeat units or exist divergent monomeric that lacks...
Centromeres, the sites of spindle attachment during mitosis and meiosis, are located in specific positions human genome, normally coincident with diverse subsets alpha satellite DNA. While there is strong evidence supporting association some subfamilies centromere function, basis for establishing whether a given sequence or not designated functional unknown, attempts to understand role particular features identity have been limited by near repetitive nature sequences. Utilizing broadly...
Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large that include many genes can lead to both neurodevelopmental phenotypes children gene amplifications tumors. There several models for inverted duplication formation, most which dicentric chromosome intermediate followed by breakage-fusion-bridge (BFB) cycles, but the mechanisms give rise remain unknown. Here we have combined high-resolution array CGH, custom sequence capture,...
Unbalanced translocations are a relatively common type of copy number variation and major contributor to neurodevelopmental disorders. We analyzed the breakpoints 57 unique unbalanced investigate mechanisms how they form. Fifty-one simple between two different chromosome ends, six rearrangements have more than three involving five chromosomes. Sequencing 37 breakpoint junctions revealed that 0 4 base pairs (bp) microhomology ( n = 26), short inserted sequences 8), or paralogous repeats 3) at...
Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We analyzed copy changes 2419 patients referred for clinical array comparative genomic hybridization studies. Twenty-three percent abnormal we found are immediately flanked by duplications > or =10 kb size =95% identical direct orientation, consistent with generated non-allelic homologous recombination. Here, describe five previously unreported loci organization...
Chromosome breakage in germline and somatic genomes gives rise to copy number variation (CNV) responsible for genomic disorders tumorigenesis. DNA sequence is known play an important role at chromosome fragile sites; however, the sequences susceptible double-strand breaks (DSBs) underlying CNV formation are largely unknown. Here we analyze 140 breakpoints from 116 individuals identify enriched breakpoint loci compared 2800 simulated control regions. We find that, overall, tandem repeats...
Copy number variation (CNV) in the long arm of chromosome 2 has been implicated developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions duplications 2q11.2, 2q13, 2q11.2–2q13. Though diverse phenotypes are associated these CNVs, some common features have emerged. Subjects 2q11.2 often exhibit DD, speech delay, attention deficit hyperactivity (ADHD),...
Chromosome ends are known hotspots of meiotic recombination and double-strand breaks. We monitored mitotic sister chromatid exchange (SCE) in telomeres subtelomeres found that 17% all SCE occurs the terminal 0.1% chromosome. Telomeres significantly enriched for SCEs, exhibiting rates per basepair at least 1,600 160 times greater, respectively, than elsewhere genome.
Human artificial chromosomes have been used to model requirements for human chromosome segregation and explore the nature of sequences competent centromere function. Normal centromeres require specialized chromatin that consists alpha satellite DNA complexed with epigenetically modified histones centromere-specific proteins. While several types assemble de novo in assays, extent which they fully recapitulate normal function has not explored. Here, we two kinds DNA, DXZ1 (from X chromosome)...