Skeletal Genetics

From Gene Identification to Murine Models of Disease

Kenneth White, Daniel L. Koller, Tim Corbin

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Changes in the human skeleton can result from DNA variants that are transmitted from parent to child via the normal meiotic processes. Genetic diseases can be inherited in rare disorders through Mendelian (single-gene) fashion via defined modes of inheritance, or through DNA changes that are much more common in the human population, and can consist of variants in multiple genes. Variants contributing to Mendelian traits usually produce large effects on gene function, with a single variant often being solely responsible for the observed bone phenotype. In contrast, in common diseases containing a heritable component, each genetic variant typically has a small effect, with the sum of these effects producing the observed phenotype. Once a gene or variant is found that links to a Mendelian disorder or to a structural or functional bone phenotype, these variants can be studied in vivo through the use of transgenic mouse models. The techniques and theory underlying isolating genetic changes that relate to diseases of bone, as well as the use of animal models for understanding bone function and targeted therapeutics, will be discussed in this chapter.

Original languageEnglish
Title of host publicationBasic and Applied Bone Biology
PublisherElsevier Inc.
Pages149-171
Number of pages23
ISBN (Print)9780124160156
DOIs
StatePublished - Aug 12 2013

Fingerprint

Phenotype
Bone and Bones
Genes
Inborn Genetic Diseases
Bone Diseases
DNA
Skeleton
Transgenic Mice
Animal Models
Population
Therapeutics

Keywords

  • Complex trait
  • Cre-LoxP
  • Gene targeting
  • Linkage
  • Mutation
  • Polymorphism
  • Transgenic mice

ASJC Scopus subject areas

  • Medicine(all)
  • Dentistry(all)

Cite this

White, K., Koller, D. L., & Corbin, T. (2013). Skeletal Genetics: From Gene Identification to Murine Models of Disease. In Basic and Applied Bone Biology (pp. 149-171). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-416015-6.00008-3

Skeletal Genetics : From Gene Identification to Murine Models of Disease. / White, Kenneth; Koller, Daniel L.; Corbin, Tim.

Basic and Applied Bone Biology. Elsevier Inc., 2013. p. 149-171.

Research output: Chapter in Book/Report/Conference proceedingChapter

White, K, Koller, DL & Corbin, T 2013, Skeletal Genetics: From Gene Identification to Murine Models of Disease. in Basic and Applied Bone Biology. Elsevier Inc., pp. 149-171. https://doi.org/10.1016/B978-0-12-416015-6.00008-3
White K, Koller DL, Corbin T. Skeletal Genetics: From Gene Identification to Murine Models of Disease. In Basic and Applied Bone Biology. Elsevier Inc. 2013. p. 149-171 https://doi.org/10.1016/B978-0-12-416015-6.00008-3
White, Kenneth ; Koller, Daniel L. ; Corbin, Tim. / Skeletal Genetics : From Gene Identification to Murine Models of Disease. Basic and Applied Bone Biology. Elsevier Inc., 2013. pp. 149-171
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