Chromosomes, Human, Pair 15

Publication Title: 
Mammalian Genome: Official Journal of the International Mammalian Genome Society

Prader-Willi syndrome (PWS) results from loss of function of a 1.0- to 1.5-Mb domain of imprinted, paternally expressed genes in human Chromosome (Chr) 15q11-q13. The loss of imprinted gene expression in the homologous region in mouse Chr 7C leads to a similar neonatal PWS phenotype. Several protein-coding genes in the human PWS region are intronless, possibly arising by retrotransposition. Here we present evidence for continued acquisition of genes by the mouse PWS region during evolution.

Chai, J. H.
Locke, D. P.
Ohta, T.
Greally, J. M.
Nicholls, R. D.
Publication Title: 
Molecular Psychiatry

Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for ?1-3% of cases. The 15q11-q13 region is subject to epigenetic regulation, and genomic copy number losses and gains cause genomic disorders in a parent-of-origin-specific manner. One 15q11-q13 locus encodes the GABA(A) receptor ?3 subunit gene (GABRB3), which has been implicated by several studies in both autism and absence epilepsy, and the co-morbidity of epilepsy in autism is well established.

Delahanty, R. J.
Kang, J. Q.
Brune, C. W.
Kistner, E. O.
Courchesne, E.
Cox, N. J.
Cook, E. H.
Macdonald, R. L.
Sutcliffe, J. S.
Publication Title: 
Autism Research: Official Journal of the International Society for Autism Research

Dysfunction of cerebral cortex in autism is thought to involve alterations in inhibitory neurotransmission. Here, we screened, in prefrontal cortex (PFC) of 15 subjects diagnosed with autism and 15 matched controls the expression of 44 transcripts that are either preferentially expressed in gamma-aminobutyric acidergic interneurons of the mature cortex or important for the development of inhibitory circuitry. Significant alterations in the autism cohort included decreased expression (-45%) of RPP25 (15q24.1), which is located within the autism susceptibility locus, 15q22-26.

Huang, Hsien-Sung
Cheung, Iris
Akbarian, Schahram
Publication Title: 
Journal of the American Academy of Child and Adolescent Psychiatry

OBJECTIVE: Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD.

Grafodatskaya, Daria
Chung, Brian
Szatmari, Peter
Weksberg, Rosanna
Publication Title: 

Prader-Willi syndrome (PWS) is a relatively rare disorder that originates from paternally inherited deletions and maternal disomy (mUPD) within the 15q11-q13 region or alterations in the PWS imprinting center. Evidence is accumulating that mUPD underlies high prevalence of psychosis among PWS patients. Several genes involved in differentiation and survival of neurons as well as neurotransmission known to act in the development of PWS have been also implicated in schizophrenia.

Krefft, Maja
Frydecka, Dorota
Adamowski, Tomasz
Misiak, Blazej
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