Telomeres represent ends of all eukaryotic chromosomes and serve specialized biological role in maintaining genomic integrity by preventing end fusions and degradation. Various protein complexes associate with telomeres to either protect them from DNA damage machinery or maintain telomere length homeostasis. These protein complex subunits cross talk with a variety of cell-signaling components to either maintain telomere integrity or perform other functions, which are either dependent or independent of telomeres and/or their telomeric role. Mutations in these protein components lead to the development of various human diseases, such as age-related disorders, which occur mainly due to telomere dysfunction or cancer development due to telomerase reactivation. This chapter focuses on the structural and functional aspects of telomeric proteins and their importance in human diseases.
Part of the book: Telomere