Harnessing Genomics to Identify Environmental Determinants of Heritable Disease

Details

• Personal Author:
  Auerbach SS ; Awadalla P ; Bishop JB ; Davis SR ; DeMarini DM ; Douglas GR ; Dubrova YE ; Elespuru RK ; Glover TW ; Hales BF ; Hurles ME ; Klein CB ; Lucas Argueso JL ; Lupski JR ; Manchester DK ; Marchetti F ; Montpetit A ; Mulvihill JJ ; Robaire B ; Robbins WA ; Rouleau GA ; Shaughnessy DT ; Somers CM ; Taylor JG VI ; Trasler J ; Waters MD ; Wilson TE ; Witt KL ; Yauk CL
• Description:
  Next-generation sequencing technologies can now be used to directly measure heritable de novo DNA sequence mutations in humans. However, these techniques have not been used to examine environmental factors that induce such mutations and their associated diseases. To address this issue, a working group on environmentally induced germline mutation analysis (ENIGMA) met in October 2011 to propose the necessary foundational studies, which include sequencing of parent-offspring trios from highly exposed human populations, and controlled dose-response experiments in animals. These studies will establish background levels of variability in germline mutation rates and identify environmental agents that influence these rates and heritable disease. Guidance for the types of exposures to examine come from rodent studies that have identified agents such as cancer chemotherapeutic drugs, ionizing radiation, cigarette smoke, and air pollution as germ-cell mutagens. Research is urgently needed to establish the health consequences of parental exposures on subsequent generations. [Description provided by NIOSH]
• Subjects:
  Environment Genetics Occupational Health Safety
• Keywords:
  Author Keywords: Germ Cell Copy Number Variants Environmental Factors Genes Genetic Factors Genomics Germ Cells Heredity Heritable Mutation Mutation Next Generation Sequencing

  More +
• ISSN:
  0027-5107
• Document Type:
  Text
• Funding:
  Grant
• Genre:
  Journal Article
• Place as Subject:
  California ; Colorado ; Michigan ; New York ; Oklahoma ; OSHA Region 2 ; OSHA Region 5 ; OSHA Region 6 ; OSHA Region 8 ; OSHA Region 9
• CIO:
  National Institute for Occupational Safety and Health (NIOSH)
• Topic:
  Workplace Safety & Health
• Location:
  North America
• Pages in Document:
  6-9
• Volume:
  752
• Issue:
  1
• NIOSHTIC Number:
  nn:20055897
• Citation:
  Mutat Res 2013 Jan-Mar; 752(1):6-9
• Email:
  carole.yauk@hc-sc.gc.ca
• Federal Fiscal Year:
  2013
• Performing Organization:
  University of California Los Angeles
• Peer Reviewed:
  True
• Start Date:
  20050701
• Source Full Name:
  Mutation Research
• End Date:
  20270630
• Collection(s):
  National Institute for Occupational Safety and Health
• Main Document Checksum:
  urn:sha-512:067d7611b8b66a56c59882ceedd904bee2bf933e3c4172f9c1b4ca74b6339bf4b77c93043ededc9dd538d0b1cbc3584760eaca4070306aca4d90807fc8c8d75a
• Download URL:
  https://stacks.cdc.gov/view/cdc/213652/cdc_213652_DS1.pdf
• File Type:
  [PDF - 174.63 KB ]