Analysis of human sarcospan as a candidate gene for CFEOM1.
Analysis of human sarcospan as a candidate gene for CFEOM1.
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DOI：
10.1186/1471-2156-2-3
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发表时间：
2001
期刊：
影响因子：
2.9
通讯作者：
Kunkel LM
中科院分区：
文献类型：
--
作者：
O'Brien KF;Engle EC;Kunkel LM
先天性眼外肌纤维化1型（CFEOM1）是一种与12号染色体（12p11.2-q12）着丝粒周围相关的常染色体显性眼球运动障碍。Sarcospan是骨骼肌和眼外肌中肌营养不良蛋白相关蛋白复合物的成员，定位于人类染色体12p11.2。编码骨骼肌肌节-肌聚糖复合物（α-δ肌聚糖）的其他组分的基因突变已被证明会导致肢带型肌营养不良症（LGMD 2C-F）。为了确定sarcosspan基因突变是否与CFEOM1有关，我们：（1）尝试将sarcosspan定位到CFEOM1关键区域;（2）开发了一套基因组引物，直接对CFEOM1患者的sarcosspan基因进行测序;（3）制备了一种抗sarcosspan抗体，用于检查CFEOM1患者的眼外肌活检。当通过聚合酶链反应检测时，在酵母或细菌人工染色体上未检测到来自CFEOM1关键区域的sarcospan序列。对6个CFEOM1家系的sarcospan基因进行测序，未发现突变。CFEOM1眼外肌的免疫组化研究显示膜上sarcospan水平正常。最后，sarcospan被电子映射到被认为是CFEOM1关键区域之外的细菌人工染色体。在这份报告中，我们评估sarcospan作为CFEOM1的候选基因。我们发现sarcospan不太可能参与这种疾病的发病机制。到目前为止，还没有发现sarcospan基因突变会导致肌肉异常。
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin associated protein complex in skeletal and extraocular muscle and maps to human chromosome 12p11.2. Mutations in the genes encoding each of the other components of the skeletal muscle sarcospan-sarcoglycan complex (α - δ sarcoglycan) have been shown to cause limb girdle muscular dystrophy (LGMD2C-F). To determine whether mutations in the sarcospan gene are responsible for CFEOM1 we: (1) attempted to map sarcospan to the CFEOM1 critical region; (2) developed a genomic primer set to directly sequence the sarcospan gene in CFEOM1 patients; and (3) generated an anti-sarcospan antibody to examine extraocular muscle biopsies from CFEOM1 patients. When tested by polymerase chain reaction, sarcospan sequence was not detected on yeast or bacterial artificial chromosomes from the CFEOM1 critical region. Sequencing of the sarcospan gene in CFEOM1 patients from 6 families revealed no mutations. Immunohistochemical studies of CFEOM1 extraocular muscles showed normal levels of sarcospan at the membrane. Finally, sarcospan was electronically mapped to bacterial artificial chromosomes that are considered to be outside of the CFEOM1 critical region. In this report we evaluate sarcospan as a candidate gene for CFEOM1. We have found that it is highly unlikely that sarcospan is involved in the pathogenesis of this disease. As of yet no sarcospan gene mutations have been found to cause muscular abnormalities.
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影响因子：
4.8
作者：
Crosbie, RH;Heighway, J;Campbell, KP
通讯作者：
Campbell, KP
影响因子：
4.4
作者：
Renault, B;Hovnanian, A;Kucherlapati, R
通讯作者：
Kucherlapati, R
影响因子：
64.5
作者：
ROBERDS, SL;LETURCQ, F;CAMPBELL, KP
通讯作者：
CAMPBELL, KP
DOI：
10.1083/jcb.145.1.153
发表时间：
1999-04-05
期刊：
The Journal of cell biology
影响因子：
--
作者：
Crosbie RH;Lebakken CS;Holt KH;Venzke DP;Straub V;Lee JC;Grady RM;Chamberlain JS;Sanes JR;Campbell KP
通讯作者：
Campbell KP
影响因子：
11.2
作者：
Engle, EC;Goumnerov, BC;Beggs, AH
通讯作者：
Beggs, AH