Germ line mutations of the HMGA2 gene are rare among the general population.

Proteins encoded by the HMGA family are architectural transcription factors, which induce conformational changes in the DNA and thus influence gene expression. Despite the obvious association of the expression of high mobility group protein genes with human cancer, very little is known about the variation of the HMGA proteins within human populations. Therefore, the coding regions of HMGA2 from 87 normal healthy donors were sequenced with the aim of detecting single nucleotide polymorphisms. There was only one sequence divergence leading to an amino acid change in coding regions of HMGA2. Thus, HMGA2 is not only well conserved between species but there is also a high intra-individual conservation of HMGA2, further supporting the important role of HMGA proteins in cellular processes. This analysis clearly demonstrates that as a rule, germ line mutations of HMGA2 are not the cause for benign tumors, e.g. uterine leiomyomas, or human malignant solid tumors.