A5016220011- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Birth, Development, and Health
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Cervical Cancer and HPV Research
- Genomic variations and chromosomal abnormalities
- Growth Hormone and Insulin-like Growth Factors
- Gestational Diabetes Research and Management
- Genetic factors in colorectal cancer
- Autism Spectrum Disorder Research
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Heavy Metal Exposure and Toxicity
- Digestive system and related health
- Soil Carbon and Nitrogen Dynamics
- Asian Culture and Media Studies
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer-related gene regulation
- Marine animal studies overview
- BRCA gene mutations in cancer
- Peatlands and Wetlands Ecology
- Childhood Cancer Survivors' Quality of Life
- Plant Ecology and Soil Science
North Carolina State University
2015-2024
Duke University
2004-2014
Duke Medical Center
1998-2013
Dr. John T. Macdonald Foundation
2009
University of Miami
2009
Duke University Hospital
1998-2009
Center for Human Genetics
2009
Immunovaccine (Canada)
2009
New Mexico Institute of Mining and Technology
1998
Plant communities of large portions the southwestern United States have changed from grassland to desert shrubland. Previous studies demonstrated that soil nutrient resources become spatially more heterogeneous and are redistributed into islands fertility with shift in vegetation. The research presented here addressed question whether temporally as well when undergoes desertification form Within adjacent creosotebush sites, profiles were described at three pits, samples collected for...
Cadmium (Cd) is a ubiquitous and environmentally persistent toxic metal that has been implicated in neurotoxicity, carcinogenesis obesity essential metals including zinc (Zn) iron (Fe) may alter these outcomes. However mechanisms underlying relationships remain limited. We examined whether maternal Cd levels during early pregnancy were associated with offspring DNA methylation at regulatory sequences of genomically imprinted genes weight birth, Fe Zn altered associations. Cd, measured blood...
Imprinted genes – critical for growth, metabolism, and neuronal function are expressed from one parental allele. Parent-of-origin-dependent CpG methylation regulates this expression at imprint control regions (ICRs). Since ICRs established before tissue specification, these marks similar across cell types. Thus, they attractive investigating the developmental origins of adult diseases using accessible tissues, but remain unknown. We determined genome-wide candidate in humans by performing...
Humans are exposed to low-dose ionizing radiation (LDIR) from a number of environmental and medical sources.In addition inducing genetic mutations, there is concern that LDIR may also alter the epigenome.Such heritable effects early in life can either be positively adaptive or result enhanced formation diseases, including cancer, diabetes, obesity.Herein, we show significantly increased DNA methylation at viable yellow agouti (A vy ) locus sex-specific manner (P.)400.0؍Average was male...
Pre-pregnancy obesity is an established risk factor for adverse sex-specific cardiometabolic health in offspring. Epigenetic alterations, such as DNA methylation (DNAm), are a hypothesized link; however, epigenomic targets remain unclear. Leveraging data from the Newborn Epigenetics Study (NEST) cohort, linear regression models were used to identify CpG sites cord blood leukocytes associated with pre-pregnancy 187 mother-female and 173 mother-male offsprings. DNAm was measured using Illumina...
Imprinted genes are defined by their preferential expression from one of the two parental alleles. This unique mode gene is dependent on allele-specific DNA methylation profiles established at regulatory sequences called imprinting control regions (ICRs). These loci have been used as biosensors to study how environmental exposures affect and transcription. However, a critical unanswered question whether they more, less, or equally sensitive stressors rest genome.Using cadmium exposure in...
Lead exposure during early development causes neurodevelopmental disorders by unknown mechanisms. Epidemiologic studies have focused recently on determining associations between lead and global DNA methylation; however, such approaches preclude the identification of loci that may alter human disease risk.The objective this study was to determine whether maternal, postnatal, childhood can differentially methylated regions (DMRs) control monoallelic expression imprinted genes involved in...
Abstract Background: Only 5% of all breast cancers are the result BRCA1/2 mutations. Methylation silencing tumor suppressor genes is well described in sporadic cancer; however, its role familial cancer not known. Methods: CpG island promoter methylation was tested initial random periareolar fine-needle aspiration sample from 109 asymptomatic women at high risk for cancer. Promoter targets included RARB (M3 and M4), ESR1, INK4a/ARF, BRCA1, PRA, PRB, RASSF1A, HIN-1, CRBP1. Results: Although...
Several candidate gene studies support RELN as susceptibility for autism. Given the complex inheritance pattern of autism, it is expected that gene-gene interactions will exist. A logical starting point examining potential to evaluate joint effects genes involved in a common biological pathway. shares pathway with APOE, and Persico et al. have observed transmission distortion APOE-2 allele autism families.We evaluated APOE susceptibility.A total 470 Caucasian families were analyzed (265...
Differentially methylated regions (DMRs) are stable epigenetic features within or in proximity to imprinted genes. We used this feature identify candidate human loci by quantitative DNA methylation analysis. discovered a unique DMR at the 5'-end of FAM50B 6p25.2. determined that sense transcripts originating from locus expressed paternal allele all tissues investigated except for ovary, which expression is biallelic. Furthermore, an antisense transcript, FAM50B-AS, was identified be...
Despite comparable screening rates for precancerous lesions, higher incidence and mortality related to cervical cancer in minority women persists. Recent evidence suggests that with lesions harbor a wider range of human papillomavirus (HPV) genotypes, many these distinct from HPV16/18, those most commonly found Caucasian women. The goal the analysis was determine if inflammatory cytokines chemokines varied by HPV 16/18 versus other genotypes tissues Tanzanian women.HPV concentrations were...
Although maternal systemic inflammation is hypothesized to link pre-pregnancy obesity offspring metabolic dysfunction, patient empirical data are limited.
Alzheimer's disease (AD) prevalence is twice as high in non-Hispanic Blacks (NHBs) Whites (NHWs). The objective of this study was to determine whether aberrant methylation at imprint control regions (ICRs) associated with AD. Differentially methylated (DMRs) were bioinformatically identified from whole-genome bisulfite sequenced DNA derived brain tissue 9 AD (5 NHBs and 4 NHWs) 8 controls (4 NHWs). We DMRs located within 120 defined candidate ICRs the human imprintome (...
The Mannose 6 Phosphate/Insulin-like Growth Factor Receptor-2 (IGF2R) encodes a type-1 membrane protein that modulates availability of the potent mitogen, IGF2. We evaluated associations between IGF2R non-synonymous genetic variants (c.5002G>A, Gly1619Arg(rs629849), and c.901C>G, Leu252Val(rs8191754)), circulating IGF2 levels, colon cancer (CC) risk among African American White participants enrolled in North Carolina Colon Cancer Study (NCCCS). Generalized linear models were used to compare...
Cadmium (Cd) is a ubiquitous environmental pollutant associated with wide range of health outcomes including cancer. However, obscure exposure sources often hinder prevention efforts. Further, although epigenetic mechanisms are suspected to link these associations, gene sequence regions targeted by Cd unclear. Aberrant methylation differentially methylated region (DMR) on the MEG3 that regulates expression cluster genes MEG3, DLK1, MEG8, MEG9 and DIO3 has been multiple cancers. In 287...
Abstract Chromosomal breaks and rearrangements have been observed in conjunction with autism autistic spectrum disorders. A chromosomal inversion has previously reported siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals associated disabilities. The containing strongly implicated linkage studies, particularly language defects as well other disorders components. Mapping of breakpoints FISH localized 99–108.75 Mb...
The Mannose 6 Phosphate/Insulin-like Growth Factor Receptor-2 ( IGF2R ) encodes a type-1 membrane protein that modulates availability of the potent mitogen, IGF2. We evaluated associations between non-synonymous genetic variants (c.5002G>A, Gly1619Arg(rs629849), and c.901C>G, Leu252Val(rs8191754)), circulating IGF2 levels, colon cancer (CC) risk among African American White participants enrolled in North Carolina Colon Cancer Study (NCCCS). Generalized linear models were used to...
Abstract Background Differentially methylated imprint control regions (ICRs) regulate the monoallelic expression of imprinted genes. Their epigenetic dysregulation by environmental exposures throughout life results in formation common chronic diseases. Unfortunately, existing Infinium methylation arrays lack ability to profile these adequately. Whole genome bisulfite sequencing (WGBS) is unique method able ICRs. However, it very expensive and requires not only a high coverage, but also...
The role of host epigenetic mechanisms in the natural history low-grade cervical intraepithelial neoplasia (CIN1) is not well characterized. We explored differential methylation imprinted gene regulatory regions as predictors risk CIN1 regression. A total 164 patients with were recruited from 10 Duke University clinics for CIN Cohort Study. Participants had colposcopies at enrollment and up to five follow-up visits over 3 years. DNA was extracted exfoliated cells quantitation CpG...
Background: Tobacco smoking during pregnancy is associated with metabolic dysfunction in children, but mechanistic insights remain limited. Hypomethylation of cg05575921 the aryl hydrocarbon receptor repressor ( AHRR ) gene utero tobacco smoke exposure. In this study, we evaluated whether hypomethylation mediates association between maternal and children. Methods: We assessed using liver fat content (LFC), serum, clinical data children aged 7–12 years (n=78) followed since birth. Maternal...