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PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes

Wilson N.D.a · Ross L.J.N.b · Crow T.J.b · Volpi E.V.a
aWellcome Trust Centre for Human Genetics, University of Oxford; bPrince of Wales International Centre for SANE Research, Warneford Hospital, Oxford (UK) Cytogenet Genome Res 114:137–139 (2006) (DOI:10.1159/000093329)


Protocadherin X (PCDHX) and Protocadherin Y (PCDHY) are cell-surface adhesion molecules expressed predominantly in brain. The human PCDH11X/Y gene pair is located in the non-pseudoautosomal X-Y homologous region (Xq21.3/Yp11.2). The possible existence of PCDH11 gene dosage differences between human and non-human primates is of evolutionary significance with respect to species differences and escape from X inactivation, and has been repeatedly debated. Previous investigations on the X/Y homologous status of PCDH11 and adjacent sequences in non-human primates have highlighted the complexity of the molecular pattern and evolutionary history of this genomic region. This paper provides for the first time direct evidence for the absence of the PCDH11 genefrom the Y chromosome of chimpanzee (Pan troglodytes) as well as gorilla (Gorilla gorilla). By confirmingthe suspected lack of X-Y homologous status for PCDH11 in non-human primates, our results reinforce the hypothesis of a hominid-specific role for this gene in brain development.


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