{"id":1458,"date":"2011-07-22T12:49:01","date_gmt":"2011-07-22T17:49:01","guid":{"rendered":"http:\/\/cphg.virginia.edu\/cphg\/?page_id=1458"},"modified":"2019-02-11T17:09:42","modified_gmt":"2019-02-11T22:09:42","slug":"radiation-sensitivity","status":"publish","type":"page","link":"https:\/\/med.virginia.edu\/genome-sciences\/radiation-sensitivity\/","title":{"rendered":"Genetics of Radiation Sensitivity"},"content":{"rendered":"

Ionizing radiation is significantly toxic to cells as well as being a potent mutagen and carcinogen.\u00a0 Humans and other mammals display considerable population variation in their response to the lethal effects of ionizing radiation.\u00a0 Historically, there has been much interest in elucidating the genetic bases for this variation both because of the insights to be gained into the cellular pathways controlling DNA damage responses and because of the potential to utilize this information to “personalize” radiation therapy to the specific sensitivities of individual patients.\u00a0 Sensitivity to DNA damaging agents is particularly amenable to genetic studies because the phenotype can be measured, studied, and complemented in cells ex vivo<\/em>.\u00a0 That variation in sensitivity to IR is, in part, controlled by genetic risk factors, is well established; strain specific differences in survival after IR exposure have been observed in multiple species and, in humans, a number of autosomal recessive disorders have been described that are characterized by cellular hypersensitivity to IR.\u00a0 Despite the relative rarity of patients with these disorders, identification of the underlying genetic lesions has provided key insights into components of the cellular response to IR damage.<\/p>\n

For more than 20 years, we have studied the genetics of radiosensitivity in humans, focusing on known recessive genetic disorders that result in the most extreme IR hypersensitivity phenotypes.\u00a0 These studies have included the localization and fine mapping of ATM<\/em>, the gene mutated in Ataxia-telangiectasia<\/a> (A-T), the mapping and cloning of the NBN<\/em> gene mutated in Nijmegen breakage syndrome (NBS), and the description of Ligase IV Syndrome, in which patients display clinical features similar to NBS but have biallelic inactivating mutations in the LIG4<\/em> gene.\u00a0 In addition to these genetic studies, we also study the function of the cellular pathways in which the products of these genes act, primarily using in vitro<\/em> mutagenesis approaches and expression in cell lines derived from patients.<\/p>\n","protected":false},"excerpt":{"rendered":"

Ionizing radiation is significantly toxic to cells as well as being a potent mutagen and carcinogen.\u00a0 Humans and other mammals display considerable population variation in their response to the lethal effects of ionizing radiation.\u00a0 Historically, there has been much interest in elucidating the genetic bases for this variation both because of the insights to be […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":81,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":"","_links_to":"","_links_to_target":""},"tags":[],"class_list":["post-1458","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nGenetics of Radiation Sensitivity - Department of Genome Sciences<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/med.virginia.edu\/genome-sciences\/radiation-sensitivity\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetics of Radiation Sensitivity - Department of Genome Sciences\" \/>\n<meta property=\"og:description\" content=\"Ionizing radiation is significantly toxic to cells as well as being a potent mutagen and carcinogen.\u00a0 Humans and other mammals display considerable population variation in their response to the lethal effects of ionizing radiation.\u00a0 Historically, there has been much interest in elucidating the genetic bases for this variation both because of the insights to be […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/med.virginia.edu\/genome-sciences\/radiation-sensitivity\/\" \/>\n<meta property=\"og:site_name\" content=\"Department of Genome Sciences\" \/>\n<meta property=\"article:modified_time\" content=\"2019-02-11T22:09:42+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/med.virginia.edu\/genome-sciences\/radiation-sensitivity\/\",\"url\":\"https:\/\/med.virginia.edu\/genome-sciences\/radiation-sensitivity\/\",\"name\":\"Genetics of Radiation Sensitivity - 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