Functional characterization of single-nucleotide polymorphisms in the human undifferentiated embryonic-cell transcription factor 1 gene.

Single-nucleotide polymorphisms (SNPs) are single-nucleotide sequence variations between individuals. Two missense SNPs are present in the human undifferentiated embryonic-cell transcription factor 1 (UTF1) gene and their consequences for UTF1 function are investigated in this study. Expression of the UTF1 gene is restricted to pluripotent cells and UTF1 is a chromatin-associated protein with core histone-like properties.

UTF1 is a chromatin-associated protein involved in ES cell differentiation.

Embryonic stem (ES) cells are able to grow indefinitely (self-renewal) and have the potential to differentiate into all adult cell types (pluripotency). The regulatory network that controls pluripotency is well characterized, whereas the molecular basis for the transition from self-renewal to the differentiation of ES cells is much less understood, although dynamic epigenetic gene silencing and chromatin compaction are clearly implicated. In this study, we report that UTF1 (undifferentiated embryonic cell transcription factor 1) is involved in ES cell differentiation.