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Editorial
. 2011 Apr;168(4):350-3.
doi: 10.1176/appi.ajp.2011.11010173.

Parental origin, DNA structure, and the schizophrenia spectrum

Anne S Bassett
Editorial

Parental origin, DNA structure, and the schizophrenia spectrum

Anne S Bassett. Am J Psychiatry. 2011 Apr.
No abstract available

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Conflict of interest statement

The author reports no financial relationships with commercial interests.

Figures

FIGURE 1
FIGURE 1. Chromosome 15q11.2–q13.3 region, Copy Number Variation, and Associated Disordersa
a The image depicts chromosome 15, with normal diploid status, highlighting the 13 megabase chromosome 15q11.2–q13.3 region (top). Hatch marks indicate paternal origin chromosome. Segmental duplications (highly identical DNA sequences) that increase the risk for copy number variations are shown in blue, and those most commonly involved in copy number variation breakpoints (BP) relevant to disease are labeled (BP1–BP5). Solid red bars indicate 15q11–q13 duplications of varying lengths. Points on bars indicate the position of the breakpoints. Hollow red bars indicate the site of 15q11–q13 deletions causing some forms of Prader-Willi syndrome (PWS), a disorder of imprinting involving deficiencies in paternally expressed transcripts. For comparison, the site of 15q13.3 deletions flanked by BP4 and BP5 (hollow green bar), previously associated with schizophrenia and other neurodevelopmental disorders, and overlapping several genes, including CHRNA7, is also shown. The positions of four of the 30 genes (magenta) across the 15q11–q13 duplication region (UBE3A, an imprinted gene, and the slightly more telomeric gamma-aminobutyric acid [GABA] receptor gene cluster, GABRB3, GABRA5, and GABRG3) as well as the site of the imprinting control region (vertical black line) and related region of imprinted DNA sequence (curly bracket) are also shown. All relative positions are displayed using National Center for Biotechnology Information build 36. Also shown (bottom) are diagrams of the rare anomalies associated with two conditions (15q11–q13 duplication syndrome [left] and PWS [right]). A vertical arrow indicates their relative association with expression of psychosis or autism spectrum disorders. The number of copies of the 15q11–q13 region of maternal origin appears relevant to this expression.
See this image and copyright information in PMC

Comment on

  • Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.
    Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY, Kiemeney LA, Franke B, Tosato S, Bonetto C, Saemundsen E, Hreidarsson SJ; GROUP Investigators; Nöthen MM, Gurling H, O'Donovan MC, Owen MJ, Sigurdsson E, Petursson H, Stefansson H, Rujescu D, Stefansson K, Werge T. Ingason A, et al. Am J Psychiatry. 2011 Apr;168(4):408-17. doi: 10.1176/appi.ajp.2010.09111660. Epub 2011 Feb 15. Am J Psychiatry. 2011. PMID: 21324950 Free PMC article.

References

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