Characterization of sequence variations in human histone H1.2 and H1.4 subtypes

• DOI: 10.1111/j.1742-4658.2005.04793.x
• Publication Date: 2005-07-19T20:17:59Z
• Authors: Bettina Sarg; Anna Gréen; Peter Söderkvist; Wilfried Helliger; Ingemar Rundquist; Herbert H. Lindner
• Keywords: CpG site

In humans, eight types of histone H1 exist (H1.1–H1.5, H1°, H1t and H1oo), all consisting a highly conserved globular domain less N‐ C‐terminal tails. Although the precise functions these isoforms are not yet understood, subtypes have been found to be dispensable for mammalian development, it is now clear that specific may assigned certain individual subtypes. Moreover, microsequence variations within isoforms, such as polymorphisms or mutations, biological significance because high degree sequence conservation proteins. This study used hydrophilic interaction liquid chromatographic method detect variants Two deviations from wild‐type sequences were found. K562 erythroleukemic cells, alanine at position 17 in H1.2 was replaced by valine, and, Raji B lymphoblastoid lysine 173 H1.4 arginine. We confirmed findings DNA sequencing corresponding gene segments. homozygous GCC→GTC shift codon 18, giving rise Ala17Val initial methionine removed histones. cells showed heterozygous AAA→AGA change 174 H1.4, Lys173Arg substitution. The allele frequency normal Swedish population 6.8% shift, indicating this relatively frequent polymorphism. detected only present six other cell lines derived individuals suffering Burkitt's lymphoma. unclear, but increasing evidence indicates minor linker histones their binding characteristics, influence chromatin remodeling, specifically affect important cellular functions.