TY - CHAP A1 - George Seki A2 - Shoko Horita A3 - Masashi Suzuki A4 - Osamu Yamazaki A5 - Hideomi Yamada ED1 - David N. Cooper ED2 - Jian-Min Chen Y1 - 2012-10-12 PY - 2012 T1 - Pathophysiological Roles of Mutations in the Electrogenic Na+-HCO - Cotransporter NBCe1 N2 - Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment. BT - Mutations in Human Genetic Disease SP - Ch. 8 UR - https://doi.org/10.5772/39225 DO - 10.5772/39225 SN - PB - IntechOpen CY - Rijeka Y2 - 2019-12-09 ER -