title: Haploinsufficiency and telomere length homeostasis.
abstract: In humans, autosomal dominant or X-linked disease can arise through a phenomenon termed haploinsufficiency, where one remaining wild-type allele is insufficient for function. In model organisms, the impact of heterozygosity can be tested directly with engineered mutant alleles or in a hemizygous state where the expression of one allele is abrogated completely. This review will focus on haploinsufficiency as it relates to telomerase and telomere length maintenance and, citing selected examples in various model organisms, it will discuss how the problem of gene dosage relates to telomere function in normal and diseased states.
authors.affiliation: Université de Montréal, Montréal, Québec, Canada. lea.harrington@umontreal.ca
authors.forename: Lea
authors.initials: L
authors.lastname: Harrington
mesh_terms: D000818:Animals; D018628:Gene Dosage; D057895:Haploinsufficiency; D006801:Humans; D051379:Mice; D023421:Models, Animal; D009154:Mutation; D019098:Telomerase / Q000378:metabolism; D016615:Telomere / Q000235:genetics*; D059505:Telomere Homeostasis
chemical_list: D019098:Telomerase