title: The 239AB gene on chromosome 22: a novel member of an ancient gene family.
abstract: A novel family of genes expressed in human brain has recently been identified. Gene 239FB, transcribed extensively in fetal brain, was isolated from the chromosome 11p13 region associated with mental retardation component of the WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation) syndrome. This report presents a cDNA sequence and expression profile of a related gene, 239AB, isolated from adult brain library, that was mapped to chromosome 22. While similar in structure, the two genes differ in their expression pattern and may have different roles in central nervous system development and function. In contrast to the 239FB, which is expressed predominantly in fetal brain, the 239AB gene is transcribed in adult tissues. Both human genes encode novel proteins of unknown function that are highly conserved from Caenorhabditis elegans to birds and mammals. Phylogenetic analysis suggested that the two lineages of the ancient gene family represented by 239FB and 239AB have been in existence prior to the emergence of modern animals.
authors.affiliation: Center for Human Genetics, Boston University School of Medicine, MA 02118, USA. fschw@bu.edu
authors.forename: F
authors.initials: F
authors.lastname: Schwartz
authors.forename: T
authors.initials: T
authors.lastname: Ota
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000196:embryology / Q000378:metabolism; D017173:Caenorhabditis elegans / Q000235:genetics; D002645:Chickens; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005333:Fetus; D015723:Gene Library; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D009928:Organ Specificity; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016415:Sequence Alignment; D014158:Transcription, Genetic; D017624:WAGR Syndrome / Q000235:genetics*
chemical_list: C107679:MPPED1 protein, human; D009419:Nerve Tissue Proteins