Brack C, Nagata S, Mantei N, Weissmann C
Gene. 1981 Dec;15(4):379-94. doi: 10.1016/0378-1119(81)90181-5.
Fifteen DNA clones containing sequences related to human interferon-alpha cDNA were isolated from a human chromosomal gene bank (Nagata et al., Nature 287 (1980) 401-408) and characterized by restriction mapping, R-loop and heteroduplex analysis. Nine distinct DNA segments hybridized strongly with interferon-alpha 1 cDNA and formed R-loops with poly(A) RNA from interferon-producing human leukocytes; most if not all of these segments represent functional interferon genes. Five segments hybridized weakly with the probe and did not form R-loops with the poly(A) RNA; one of these was characterized as an interferon-alpha pseudogene. Several DNA segments overlap and define a region of 36 kilobase pairs (kb) that contains three strongly and three weakly hybridizing sequences. From our data and those of Goeddel et al. (Nature 290 (1981) 20-25) we conclude that there exist at least 11 distinct genes of gene-like sequences of the interferon-alpha type in the human genome, of which most likely represents an allelic variant, and at least five pseudogenes distantly related to the interferon-alpha genes.
从人类染色体基因库中分离出15个包含与人类α-干扰素cDNA相关序列的DNA克隆(长田等人,《自然》287 (1980) 401 - 408),并通过限制性图谱分析、R环和异源双链分析进行表征。九个不同的DNA片段与α-干扰素1 cDNA强烈杂交,并与来自产生干扰素的人类白细胞的聚腺苷酸RNA形成R环;这些片段中大多数(如果不是全部的话)代表功能性干扰素基因。五个片段与探针弱杂交,并且不与聚腺苷酸RNA形成R环;其中一个被鉴定为α-干扰素假基因。几个DNA片段重叠,界定了一个36千碱基对(kb)的区域,该区域包含三个强杂交序列和三个弱杂交序列。根据我们的数据以及戈德尔等人的数据(《自然》290 (1981) 20 - 25),我们得出结论,人类基因组中存在至少11个不同的α-干扰素类型的基因或类基因序列,其中大多数可能代表等位基因变体,以及至少五个与α-干扰素基因远缘相关的假基因。