Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders
(2006) In American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141(1). p.67-70- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1135565
- author
- Durand, Christelle M
; Kappeler, Caroline
; Betancur, Catalina
; Delorme, Richard
; Quach, Helene
; Goubran-Botros, Hany
; Melke, Jonas
; Nygren, Gudrun
; Chabane, Nadia
; Bellivier, Franck
; Szoke, Andrei
; Schurhoff, Franck
; Råstam, Maria
LU
; Anckarsäter, Henrik
LU
; Gillberg, Christopher
; Leboyer, Marion
and Bourgeron, Thomas
(Less) - publishing date
- 2006
- type
- Contribution to journal
- publication status
- published
- subject
- in
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- volume
- 141
- issue
- 1
- pages
- 67 - 70
- publisher
- International Society of Psychiatric Genetics
- external identifiers
-
- pmid:16331680
- scopus:30344446622
- ISSN
- 1552-4841
- DOI
- 10.1002/ajmg.b.30229
- language
- English
- LU publication?
- no
- id
- 5bd31df0-2a1b-4e2b-abc0-bda72f346fcd (old id 1135565)
- date added to LUP
- 2016-04-01 12:37:34
- date last changed
- 2022-02-19 01:05:30
@article{5bd31df0-2a1b-4e2b-abc0-bda72f346fcd,
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.}},
author = {{Durand, Christelle M and Kappeler, Caroline and Betancur, Catalina and Delorme, Richard and Quach, Helene and Goubran-Botros, Hany and Melke, Jonas and Nygren, Gudrun and Chabane, Nadia and Bellivier, Franck and Szoke, Andrei and Schurhoff, Franck and Råstam, Maria and Anckarsäter, Henrik and Gillberg, Christopher and Leboyer, Marion and Bourgeron, Thomas}},
issn = {{1552-4841}},
language = {{eng}},
number = {{1}},
pages = {{67--70}},
publisher = {{International Society of Psychiatric Genetics}},
series = {{American Journal of Medical Genetics Part B: Neuropsychiatric Genetics}},
title = {{Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders}},
url = {{http://dx.doi.org/10.1002/ajmg.b.30229}},
doi = {{10.1002/ajmg.b.30229}},
volume = {{141}},
year = {{2006}},
}