Frattini A, Faranda S, Redolfi E, Allavena P, Vezzoni P
Department of Human Genome and Multifactorial Disease Research, Istituto di Techologie Biomediche Avanzate, Milan, Italy.
Gene. 1998 Jul 3;214(1-2):1-6. doi: 10.1016/s0378-1119(98)00253-4.
The gene coding for a new member of the Immunoglobulin (Ig)-like domain-containing molecule superfamily has been identified and mapped to the human Xq25 chromosomal band. It contains 12 Ig-like domains in two clusters of 5 and 7 motifs, respectively, separated by a linker segment, followed by a transmembrane and a cytoplasmic region. The gene is conserved in mammals and is expressed in muscle, heart, brain, testis, and pancreas with transcripts of different length, suggesting that it is subjected to alternative processing. The transcript is assembled from 19 exons which are distributed along approx. 20kb; each Ig-like domain is contained in distinct exons which constitute the unit of repeated genomic duplications. Elucidation of the IGDC1 genomic structure will allow the investigation of the basis of its alternative transcription and of its possible involvement in diseases mapped to the Xq25 interval.
编码含免疫球蛋白（Ig）样结构域分子超家族新成员的基因已被鉴定，并定位到人类Xq25染色体带。它分别在由5个和7个基序组成的两个簇中包含12个Ig样结构域，由一个连接段隔开，随后是一个跨膜区和一个胞质区。该基因在哺乳动物中保守，在肌肉、心脏、大脑、睾丸和胰腺中表达，具有不同长度的转录本，表明它经历了可变加工。转录本由19个外显子组装而成，这些外显子分布在约20kb的区域；每个Ig样结构域包含在不同的外显子中，这些外显子构成了重复基因组重复的单位。IGDC1基因组结构的阐明将有助于研究其可变转录的基础以及它可能与定位到Xq25区间的疾病的关系。
