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Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.
- Source :
-
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2006 Jan 05; Vol. 141B (1), pp. 67-70. - Publication Year :
- 2006
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Abstract
- 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.<br /> ((c) 2005 Wiley-Liss, Inc.)
- Subjects :
- Amino Acid Sequence
Attention Deficit Disorder with Hyperactivity genetics
Autistic Disorder genetics
Bipolar Disorder genetics
Brain metabolism
DNA Mutational Analysis
France
Gene Expression
Gene Frequency
Haplotypes
Humans
Male
Molecular Sequence Data
Mutation, Missense
Polymorphism, Genetic
Protocadherins
RNA genetics
RNA metabolism
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid
Sweden
Cadherins genetics
Genetic Predisposition to Disease genetics
Mental Disorders genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4841
- Volume :
- 141B
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16331680
- Full Text :
- https://doi.org/10.1002/ajmg.b.30229