Exploring the 7p22.1 chromosome as a candidate region for autism.
Exploring the 7p22.1 chromosome as a candidate region for autism.
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DOI：
10.1155/2010/423894
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发表时间：
2010
影响因子：
--
通讯作者：
M'rad R
中科院分区：
文献类型：
--
作者：
Bayou N;Belhadj A;Daoud H;Briault S;Helayem MB;Chaabouni H;M'rad R
自闭症人群中新发染色体畸变的高发生率表明，某些染色体畸变与自闭症的发生之间存在因果关系。先前对一名携带t（7;16）易位的突尼斯男孩的研究发现，7号染色体上的7p22.1是自闭症的位置候选区域。染色体断点的鉴定帮助我们在染色体16p11.2上发现了新的不含已知基因的候选区域，在7p22.1上发现了含有部分基因的候选区域（NP 976327.1， RBAK， Q6NUR6也称为RNF216L和MMD2）。我们提出Q6NUR6 （RNF216L）作为自闭症的候选基因，因为它靠近染色体衍生物7上的易位断点。Q6NUR6被预测为e3泛素连接酶。定量PCR结果表明，Q6NUR6基因普遍表达，在胎儿和成人大脑中均有强烈表达。与对照组相比，患者血细胞中的Q6NUR6表达增加。这是首次报道自闭症患者血液中Q6NUR6基因（E3泛素连接酶TRIAD3 EC 6.3.2）升高。这可能是由涉及该基因的位置效应和改变其表达引起的。
A high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of autism. A previous study on a Tunisian boy carrying a t(7;16) translocation identified the 7p22.1 as a positional candidate region for autism on chromosome 7. The characterization of the chromosomal breakpoints helped us to identify new candidate regions on chromosome 16p11.2 which contain no known genes and the other one on 7p22.1 containing a portion of genes (NP 976327.1, RBAK, Q6NUR6 also called RNF216L and MMD2). We proposed Q6NUR6 (RNF216L) as a candidate gene for autism due to its vicinity to the translocation breakpoint on the chromosome derivative 7. Q6NUR6 is predicted to be an E3ubiquitin-ligase. Quantitative PCR demonstrates that Q6NUR6 gene has an ubiquitous expression and that it is strongly expressed in fetal and adult brain. The Q6NUR6 expression is increased in the patient blood cells in comparison to controls. This is the first report of Q6NUR6 gene (E3 ubiquitin ligase TRIAD3 EC 6.3.2) increasing blood levels in a patient with autism. It's probably caused by a position effect involving this gene and modifying its expression.
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影响因子：
--
作者：
Bayou, Nadia;M'rad, Ridha;Belhaj, Ahlem;Daoud, Hussein;Ben Jemaa, Lamia;Zemni, Ramzi;Briault, Sylvain;Helayem, M. Bechir;Chaabouni, Habiba
通讯作者：
Chaabouni, Habiba
DOI：
10.1002/ajmg.b.31006
发表时间：
2010-03-05
影响因子：
2.8
作者：
Bousman, Chad A.;Chana, Gursharan;Glatt, Stephen J.;Chandler, Sharon D.;Lucero, Ginger R.;Tatro, Erick;May, Todd;Lohr, James B.;Kremen, William S.;Tsuang, Ming T.;Everall, Ian P.
通讯作者：
Everall, Ian P.
影响因子：
7
作者：
Gerhard, DS;Wagner, L;Collins, FS
通讯作者：
Collins, FS
影响因子：
3.5
作者：
Kleinjan, DJ;van Heyningen, V
通讯作者：
van Heyningen, V