In search of the psychosis gene in people with Prader‐Willi syndrome
In search of the psychosis gene in people with Prader‐Willi syndrome
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寻找普瑞德威利综合征患者的精神病基因
DOI：
10.1002/ajmg.a.32212
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发表时间：
2008
影响因子：
2
通讯作者：
A. Holland
中科院分区：
文献类型：
--
作者：
T. Webb;E. Maina;S. Soni;J. Whittington;H. Boer;D. Clarke;A. Holland
Prader-Willi综合征(PWS)的两个主要原因是母系遗传的15q11-q13区域或UPD(15)MAT的缺失。这两种机制都会导致父亲对该地区的积极贡献的丧失。与PWS相关的情感性精神病已被发现主要限于具有UPD(15)MAT的先证者，而不是缺失的先证者。这表明精神病可能与两个拷贝的存在有关，而不是位于该区域远端半部分的一个或多个基因的单一拷贝的存在，该基因具有父系印记，但母系活跃，其缺失导致安杰曼综合征(AS)。一项基于人群的大规模PWS研究允许确定12名患有15q11-q13缺失的人患有精神病发作，4名患有UPD(15)MAT的成年人到目前为止还没有。当使用微卫星标记对这些人进行调查时，发现12个缺失的人具有D15S975和D15S661之间狭窄区域的两个母源拷贝，使它们在这些座位上有效地二倍体。因此，所有患有精神病的人在该区域都有两个任何印记基因的活跃副本，而所有非精神病患者(包括对照组)只有一个。定量RT-PCR研究表明，由于或导致基因失调，FLJ33332的表达不足可能与PWS的精神病有关。©2008 Wiley-Liss，Inc.
The two main causes of Prader‐Willi syndrome (PWS) are a paternally derived deletion in the maternally imprinted 15q11–q13 region or UPD(15)mat. Both mechanisms result in a loss of the active paternal contribution to the region. The affective psychosis associated with PWS has been found to be mainly confined to the propositi with UPD(15)mat rather than to those with a deletion. This suggests that the psychosis may be related to the presence of two copies rather than a single copy of a gene or genes located in the distal half of the region which is paternally imprinted, but maternally active, and whose loss results in Angelman syndrome (AS). A large population‐based study of PWS allowed the identification of 12 people with a 15q11–q13 deletion who had suffered psychotic episodes and four adults with UPD(15)mat who so far had not. When these people were investigated using microsatellite markers, the 12 with a deletion were found to have two maternally derived copies of a narrow region between D15S975 and D15S661 making them effectively disomic for these loci. Thus all of the people with psychosis had two active copies of any imprinted genes in the region while all non‐psychotic people (including controls) had only one. Quantitative RT‐PCR studies suggest that a lack of expression of FLJ33332, either as a result of or resulting in gene dysregulation, may be associated with psychosis in PWS. © 2008 Wiley‐Liss, Inc.
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影响因子：
4
作者：
de la Monte, Suzanne M.;Wands, Jack R.
通讯作者：
Wands, Jack R.
影响因子：
8
作者：
V. A. Holm;S. Cassidy;M. Butler;J. M. Hanchett;L. R. Greenswag;B. Whitman;F. Greenberg
通讯作者：
V. A. Holm;S. Cassidy;M. Butler;J. M. Hanchett;L. R. Greenswag;B. Whitman;F. Greenberg
影响因子：
17.7
作者：
DeLisi, LE;Shaw, SH;Sherrington, R
通讯作者：
Sherrington, R
Angelman 综合征：用染色体 15q11q13 特异性 DNA 标记鉴定的三个分子类别。
影响因子：
9.8
作者：
Knoll,JH;Nicholls,RD;Magenis,RE;Glatt,K;GrahamJr,JM;Kaplan,L;Lalande,M
通讯作者：
Lalande,M