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 involved in the regulation of pituitary gene transcription. The human PREB gene encodes a predicted protein of 417 amino acids, exhibiting several sequences characteristic of the WD-motif protein family. PREB transcripts were detected in every human fetal and adult tissue examined, although a great variation in levels of expression was observed. PREB was mapped to human Chromosome 2p23, a region of the genome associated with partial trisomy 2p syndrome. Although variable, the common duplication phenotype includes facial abnormalities, skeletal defects, growth and mental retardation, congenital heart and neural tube defects, and abnormalities of the genitalia. We propose that PREB has a role during human development and that abnormal dosage of this transcription factor may be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p.
Department of Physiology and Biophysics, Box 1218, Mount Sinai Medical Center, One Gustave L.Levy Place, New York, New York 10029, USA. clelland@inka.mssm.edu
C L
CL
Taylor Clelland
B
B
Levy
J M
JM
McKie
A M
AM
Duncan
K
K
Hirschhorn
C
C
Bancroft
D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics; D020662:Guanine Nucleotide Exchange Factors; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013577:Syndrome; D014018:Tissue Distribution; D014157:Transcription Factors / Q000235:genetics*; D014314:Trisomy
D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D020662:Guanine Nucleotide Exchange Factors; C118971:PREB protein, human; D012333:RNA, Messenger; D014157:Transcription Factors; D004247:DNA