Yaspo M L, Aaltonen J, Horelli-Kuitunen N, Peltonen L, Lehrach H
Max Planck Institute fuer Molekulare Genetik, Berlin, Germany. yaspo@mpimg-berlin dahlem.mpg.de
Genomics. 1998 Apr 1;49(1):133-6. doi: 10.1006/geno.1998.5217.
The distal part of human chromosome 21q22.3 is exceptionally gene rich and contains several loci that have been linked to hereditary disorders. In the course of constructing an extensive transcript map for chromosome 21, we have isolated numerous coding segments in 21q22.3 that represent potential candidate genes in this region. Following this approach, we have cloned a novel single-copy gene (C21orf3) (HGMW-approved symbol C21orf1) expressed as a unique 2.69-kb mRNA in a wide range of tissues. We have precisely mapped C21orf3 by fiber FISH distal to marker D21S171. The C21orf3 gene encodes a predicted protein of 180 residues that does not share any sequence homology with other known proteins. C21orf3 harbors predicted structural features of a type Ia integral membrane protein and contains a tetrapeptide motif (YXRF) observed in several cell surface proteins involved in signal transduction. Although the function of C21orf3 is still unknown, this novel gene may play an important role in a cell trafficking mechanism.
人类21号染色体21q22.3的远端富含基因，包含几个与遗传性疾病相关的基因座。在构建21号染色体广泛转录图谱的过程中，我们在21q22.3中分离出了许多编码片段，这些片段代表了该区域潜在的候选基因。按照这种方法，我们克隆了一个新的单拷贝基因（C21orf3）（HGMW批准的符号为C21orf1），它在多种组织中表达为一种独特的2.69kb mRNA。我们通过纤维荧光原位杂交将C21orf3精确地定位在标记D21S171远端。C21orf3基因编码一个由180个氨基酸组成的预测蛋白，该蛋白与其他已知蛋白没有任何序列同源性。C21orf3具有I型整合膜蛋白的预测结构特征，并包含在几种参与信号转导的细胞表面蛋白中观察到的四肽基序（YXRF）。尽管C21orf3的功能仍然未知，但这个新基因可能在细胞运输机制中起重要作用。
