Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3.
Protocadherins (Pcdhs) are members of the rapidly growing cadherin superfamily and are thought to be involved in cell-cell recognition in the central nervous system. Using human BH-Pcdh cDNA, we retrieved a homologous gene from the database. The new gene (Pcdh-X, HGMW-approved symbol PCDH11) was present on a genomic clone of human chromosome X (clone bWXD306), between two sequence tagged sites, sWXD1362 and 221. Pcdh-X therefore maps to the XY homology region in Xq21.3. The open reading frame consists of 1021 amino acids (aa) including seven cadherin repeats (EC1-7) in the extracellular domain. The Pcdh-X gene consists of at least three exons; the first exon encodes the 5'-untranslated region, EC1, and half of EC2, the second exon encodes the remainder of the Pcdh-Xa, and the third exon encodes the cytoplasmic tail of Pcdh-Xb and its 3'-untranslated region. The second exon has an alternative splice site that is used to produce two isoforms with different cytoplasmic tails of 10 (Pcdh-Xa) or 14 amino acids (Pcdh-Xb). Northern blot analysis revealed an approximately 6.0-kb transcript expressed in human and mouse fetal brain.
Yoshida
K
K
Department of Virology, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
Sugano
S
S
D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D001921:Brain / Q000378:metabolism; D015820:Cadherins / Q000096:biosynthesis / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D004622:Embryo, Mammalian; D005091:Exons / Q000235:genetics; D005333:Fetus; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D020161:Physical Chromosome Mapping; D000091363:Protocadherins; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
D015820:Cadherins; C404498:PCDH11X protein, human; D000091363:Protocadherins