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Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.

Journal article
Authors Christelle M Durand
Caroline Kappeler
Catalina Betancur
Richard Delorme
Hélène Quach
Hany Goubran-Botros
Jonas Melke
Gudrun Nygren
Nadia Chabane
Franck Bellivier
Andrei Szoke
Franck Schurhoff
Maria Råstam
Henrik Anckarsäter
Christopher Gillberg
Marion Leboyer
Thomas Bourgeron
Published in American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics
Volume 141
Issue 1
Pages 67-70
ISSN 1552-4841
Publication year 2006
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 67-70
Language en
Keywords Amino Acid Sequence, Attention Deficit Disorder with Hyperactivity, Genetics, Autistic Disorder, Genetics, Bipolar Disorder, Genetics, Brain, Metabolism, Cadherins, Genetics, DNA Mutational Analysis, France, Gene Expression, Gene Frequency, Genetic Predisposition to Disease, Genetics, Haplotypes, Humans, Male, Mental Disorders, Genetics, Molecular Sequence Data, Mutation, Mutation, Missense, Polymorphism, Genetic, RNA, Genetics, Metabolism, Reverse Transcriptase Polymerase Chain Reaction, Sequence Homology, Amino Acid, Sweden
Subject categories Psychiatry


Synaptogenesis, the formation of functional synapses, is a crucial step for the development of the central nervous system. Among the genes involved in this process are cell adhesion molecules, such as protocadherins and neuroligins, which are essential factors for the identification of the appropriate partner cell and the formation of synapses. In this work, we studied the expression and the genetic variability of two closely related members of the protocadherin family PCDH11X/Y, located on the X and the Y chromosome, respectively. PCDH11Y is one of the rare genes specific to the hominoid lineage, being absent in other primates. Expression analysis indicated that transcripts of the PCDH11X/Y genes are mainly detected in the cortex of the human brain. Mutation screening of 30 individuals with autism identified two PCDH11Y polymorphic amino acid changes, F885V and K980N. These variations are in complete association, appeared during human evolution approximately 40,000 years ago and represent informative polymorphisms to study Y chromosome variability in populations. We studied the frequency of these variants in males with autism spectrum disorders (n = 110), attention deficit hyperactivity disorder (ADHD; n = 61), bipolar disorder (n = 61), obsessive-compulsive disorder (n = 51), or schizophrenia (n = 61) and observed no significant differences when compared to ethnically-matched control populations. These findings do not support the role of PCDH11Y, or more generally of a frequent specific Y chromosome, in the susceptibility to these neuropsychiatric disorders.

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