Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome

We have isolated the human homolog of a novel rodent gene that may be invol ved in the regulation of pituitary gene transcription. The human PREB gene encodes a predicted protein of 417 amino acids, exhibiting several sequence s characteristic of the WD-motif protein family. PREB transcripts were dete cted in every human fetal and adult tissue examined, although a great varia tion in levels of expression was observed. PREB was mapped to human Chromos ome 2p23, a region of the genome associated with partial trisomy 2p syndrom e. Although variable, the common duplication phenotype includes facial abno rmalities, skeletal defects, growth and mental retardation, congenital hear t and neural tube defects, and abnormalities of the genitalia. We propose t hat PREB has a role during human development and that abnormal dosage of th is transcription factor may be involved in some of the developmental abnorm alities observed in patients with partial trisomy 2p.