Detection and isolation of a novel human gene located on Xp11.2-p11.4 that escapes X-inactivation using a two-dimensional DNA mapping method.

Using a two-dimensional DNA mapping method, we detected four NotI restriction sites that escape chromosome X-specific methylation in humans. Two genes corresponding to two of these sites that lie in the region of Xp11.2-p11.4 were cloned and their properties studied. One of the genes matched a known gene, but the other, termed EXLM1, is novel and is predominantly expressed in cultured lymphocytes and skeletal muscle.