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Gene Review

PCDH11X  -  protocadherin 11 X-linked

Homo sapiens

Synonyms: KIAA1326, PCDH-X, PCDH11, PCDHX, PPP1R119, ...
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High impact information on PCDH11X

  • To better understand the evolutionary dynamics of repetitive sequences in human sex chromosomes, we have analyzed seven new X/Y homologous microsatellites located within PCDHX/Y, one of the two recently described gene pairs in the Xq21.3/Yp11.2 hominid-specific homology block, in samples from Portugal and Mozambique [1].
  • Evolutionary patterns, relying on intragenic PCDHX/Y SNPs, also revealed distinct scenarios for X and Y chromosomes [1].
  • The most frequent PCDHY haplotype in Portuguese was the derived one, and it was not found in Mozambicans [1].
  • Although no differences in promoter methylation were found between humans and chimpanzees, evidence of an upregulation of PCDH11X in humans deserves further investigation [2].
  • In humans, PCDH11X has a homologue on the Y chromosome and is predicted to escape from X-inactivation [2].

Biological context of PCDH11X

  • Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain [2].
  • Interestingly, PCDH11X/Y gene pair is unique to Homo sapiens, since the X-linked gene was transposed to the Y chromosome after the human-chimpanzee lineages split [2].
  • Microsatellite variation and evolutionary history of PCDHX/Y gene pair within the Xq21.3/Yp11.2 hominid-specific homology block [1].
  • 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 [3].
  • 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 [3].

Other interactions of PCDH11X

  • Only two transcribed sequences have been mapped to this segment: the protocadherin genes PCDHX/Y, and the X-linked poly(A)-binding protein PABPC5 gene, whose Y-homolog has been lost during human evolution [4].

Analytical, diagnostic and therapeutic context of PCDH11X

  • Furthermore, a sexual dimorphism in levels of expression in brain tissue was observed by quantitative real-time PCR, with females presenting an up to 2-fold excess in the abundance of PCDH11X transcripts [2].
  • We examined differences in patients with schizophrenic or schizoaffective psychosis in the genomic sequence of PCDHX and PCDHY in coding and adjacent intronic sequences using denaturing high performance liquid chromatography (DHPLC) [5].


  1. Microsatellite variation and evolutionary history of PCDHX/Y gene pair within the Xq21.3/Yp11.2 hominid-specific homology block. Lopes, A.M., Calafell, F., Amorim, A. Mol. Biol. Evol. (2004) [Pubmed]
  2. Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain. Lopes, A.M., Ross, N., Close, J., Dagnall, A., Amorim, A., Crow, T.J. Hum. Genet. (2006) [Pubmed]
  3. Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3. Yoshida, K., Sugano, S. Genomics (1999) [Pubmed]
  4. The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon. Blanco-Arias, P., Sargent, C.A., Affara, N.A. Mamm. Genome (2002) [Pubmed]
  5. ProtocadherinX/Y, a candidate gene-pair for schizophrenia and schizoaffective disorder: a DHPLC investigation of genomic sequence. Giouzeli, M., Williams, N.A., Lonie, L.J., DeLisi, L.E., Crow, T.J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004) [Pubmed]
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