Pietrowski D, Goldammer T, Meinert S, Schwerin M, Förster M
Lehrstuhl für Tierzucht und Allgemeine Landwirtschaftslehre, Universität München, München (Germany).
Cytogenet Cell Genet. 1998;83(1-2):39-42. doi: 10.1159/000015162.
Proximal spinal muscular atrophy (SMA) is an autosomal recessive disease in humans and other mammals, characterized by degeneration of anterior horn cells of the spinal cord. In humans, the survival of motor neuron gene (SMN) has been recognized as the SMA-determining gene and has been mapped to 5q13. In cattle, SMA is a recurrent, inherited disease that plays an important economic role in breeding programs of Brown Swiss stock. Now we have identified the full- length cDNA sequence of the bovine SMN gene. Molecular analysis and characterization of the sequence documents 85% identity to its human counterpart and three evolutionarily conserved domains in different species. Physical mapping data reveals that bovine SMN is localized to chromosome region 20q12-->q13, supporting the conserved synteny of this chromosomal region between humans and cattle.
近端脊髓性肌萎缩症（SMA）是人类和其他哺乳动物中的一种常染色体隐性疾病，其特征为脊髓前角细胞变性。在人类中，运动神经元存活基因（SMN）已被确认为SMA决定基因，并已定位到5q13。在牛中，SMA是一种复发性遗传病，在瑞士褐牛的育种计划中具有重要经济影响。现在我们已经鉴定出牛SMN基因的全长cDNA序列。对该序列的分子分析和特征描述表明，它与人类对应序列有85%的同源性，并且在不同物种中有三个进化上保守的结构域。物理图谱数据显示，牛SMN定位于染色体区域20q12→q13，这支持了人类和牛之间该染色体区域的保守同线性。
