Taramelli R, Pontoglio M, Candiani G, Ottolenghi S, Dieplinger H, Catapano A, Albers J, Vergani C, McLean J
Dipartimento di Genetica e di Biologia dei Microrganismi, Milan, Italy.
Hum Genet. 1990 Jul;85(2):195-9. doi: 10.1007/BF00193195.
The enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol mediating the transfer of an acyl group from lecithin to the 3-hydroxy group of cholesterol. Deficiency of the enzyme is a well-known syndrome with a widespread geographic occurrence. We have cloned an allele from a patient homozygous for the LCAT deficiency. The only change that we could detect is a C to T transition in the fourth exon of the gene; this causes a substitution of Arg for Trp at position 147 of the mature protein. The functional significance of such a substitution with respect to the enzyme defect was demonstrated by transfecting the mutated LCAT gene in the cell line COS-1.
卵磷脂胆固醇酰基转移酶（LCAT）负责血浆胆固醇的酯化，介导酰基从卵磷脂转移至胆固醇的3-羟基。该酶缺乏是一种广为人知的综合征，在世界各地均有发生。我们从一名LCAT缺乏症纯合子患者身上克隆了一个等位基因。我们能够检测到的唯一变化是该基因第四外显子中的C到T转换；这导致成熟蛋白第147位的色氨酸被精氨酸取代。通过将突变的LCAT基因转染到COS-1细胞系中，证明了这种取代相对于酶缺陷的功能意义。
