Parks J S, Herd J E, Wurzel J M, Martial J A
Endocrinology. 1982 May;110(5):1672-5. doi: 10.1210/endo-110-5-1672.
Analysis of GH gene structure in the mouse permits evolutionary comparisons with GH gene structure in the rat and provides information about the mechanism responsible for heritable deficiencies of anterior pituitary hormones. The little mutation in mice is analogous to autosomal recessive, isolated, partial deficiency of GH in man, whereas the Snell dwarf mutation is a model for autosomal recessive deficiency of GH, TSH, and PRL. Mouse cellular DNA was digested with the restriction enzymes Eco RI, Bam HI, Bgl II, Hind III, and Kpn I, singly and in combination. Gene sequences containing coding information for GH were detected by hybridization to a radiolabeled recombinant DNA probe complementary to a rat GH mRNA. The results of genomic restriction analysis indicate that there is a single type of mouse GH gene sequence per haploid genome with a length equal to or less than 32000 base pairs. The distances separating 6-base restriction sites close to the mouse GH gene differ from those close to the rat GH gene. A Kpn I site in the codons for amino acids 103 and 104 of rat GH is absent in the mouse gene. Restriction patterns of DNA from little and Snell dwarf mice did not differ from those of normal mice, indicating that these mutations do not involve deletions of the mouse GH gene.
对小鼠生长激素(GH)基因结构的分析有助于与大鼠的GH基因结构进行进化比较,并提供有关垂体前叶激素遗传性缺陷发生机制的信息。小鼠的“little”突变类似于人类常染色体隐性、孤立性、部分性GH缺乏,而Snell侏儒突变则是GH、促甲状腺激素(TSH)和催乳素(PRL)常染色体隐性缺乏的模型。用限制性内切酶Eco RI、Bam HI、Bgl II、Hind III和Kpn I单独或联合消化小鼠细胞DNA。通过与与大鼠GH mRNA互补的放射性标记重组DNA探针杂交,检测含有GH编码信息的基因序列。基因组限制性分析结果表明,每个单倍体基因组有单一类型的小鼠GH基因序列,其长度等于或小于32000个碱基对。靠近小鼠GH基因的6碱基限制性位点之间的距离与靠近大鼠GH基因的不同。小鼠基因中不存在大鼠GH第103和104位氨基酸密码子中的Kpn I位点。“little”和Snell侏儒小鼠的DNA限制性图谱与正常小鼠的没有差异,表明这些突变不涉及小鼠GH基因的缺失。