The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene
The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene
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小鼠 Mlc1 (Wkl1, KIAA0027) 基因的基因组结构
DOI：
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发表时间：
2003
影响因子：
3.3
通讯作者：
K. Lesch
中科院分区：
文献类型：
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作者：
V. Steinke;J. Meyer;Y. Syagailo;G. Ortega;H. Hameister;R. Mössner;A. Schmitt;K. Lesch
总结。人类MLC1(WKL1，KIAA0027)基因编码一种仅在脑内表达的跨膜蛋白。该基因内的隐性突变可导致皮质下囊肿性巨脑白质脑病(MLC，MIM 604004,605908)。此外，该基因的错义突变可能与遗传性紧张性精神分裂症有关。小鼠mLc1基因由12个外显子组成，跨度为20 kb，所有外显子-内含子边界均符合GT/AG共识。剪接后的单拷贝转录本全长2.8kb，5‘端非翻译区(5’-∼)496 ，3‘端非翻译区1143 ，编码382个氨基酸。包括CCAAT-box在内的转录因子的潜在结合位点存在于5‘-侧翼区。荧光原位杂交将该基因定位于小鼠染色体15E-F，这是一个与人类染色体22q13同线的区域。对小鼠基因基因组结构的表征将有助于在转基因小鼠模型中研究编码蛋白的基因功能和生理特性。
Summary. The human MLC1 (WKL1, KIAA0027) gene encodes a putative transmembrane protein expressed exclusively in brain. Recessive mutations within this gene cause megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM 604004, 605908). Furthermore, a missense mutation in this gene is suggestively linked with hereditary catatonic schizophrenia in a large pedigree. The murine gene Mlc1 is composed of 12 exons spanning ∼20 kb, and all exon-intron boundaries conform to the GT/AG consensus. The single copy transcript after splicing is ∼2.8 kb in length, it contains 496 bp of 5′ untranslated region (5′-UTR) and 1143 bp of 3′-UTR, and encodes a protein of 382 amino acids. Potential binding sites for transcription factors including CCAAT-boxes are present in the 5′-flanking region. Fluorescent in situ hybridization localizes the gene to mouse chromosome 15E-F, a region syntenic to human chromosome 22q13. The characterization of the genomic structure of the murine gene will facilitate studies of gene function and physiological properties of the encoded protein in transgenic mouse models.