Wang S, Nadeau J H, Duncan A, Robert M F, Fontaine G, Schappert K, Johnson K R, Zietkiewicz E, Hruz P, Miziorko H
Service de Génétique Médicale, Hôpital Sainte-Justine, Montreal, Quebec, Canada.
Mamm Genome. 1993;4(7):382-7. doi: 10.1007/BF00360589.
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) is a homodimeric mitochondrial matrix enzyme that catalyzes the last step of ketogenesis. Using a human HL cDNA as a probe, we isolated a 1.4-kb mouse HL cDNA (HLM) from a mouse liver library and extended the sequence in the 5' direction, using RACE PCR to include the complete coding sequence. The nucleotide sequence of the mouse HL coding region is 85.7% identical to human HL, and 52.6% to Ps. mevalonii HL. Peptide identities of 87.4% and 54.3% respectively were observed. Southern analysis of 29 strains of laboratory mice and of Mus spretus revealed a total of about 25 kb of hybridizing fragments and three polymorphic fragments in both EcoRI and Hin-dIII digestions. The mouse HL locus (Hmgcl) was localized on Chromosome (Chr) 4: Pmv-19-12.6 +/- 3.6 cM-Hmgcl-7.3 +/- 2.3 cM-Xmv-8-1.5 +/- 1.0 cM-Gpd-1. The human HL locus (HMGCL) was mapped to distal Chr 1p by analysis of a human-hamster hybrid cell panel and by in situ hybridization.
3-羟基-3-甲基戊二酰辅酶A裂解酶（HL）是一种同源二聚体线粒体基质酶，催化生酮作用的最后一步。我们以人HL cDNA为探针，从小鼠肝脏文库中分离出一个1.4kb的小鼠HL cDNA（HLM），并利用RACE PCR在5'方向延伸序列，以包含完整的编码序列。小鼠HL编码区的核苷酸序列与人类HL的同源性为85.7%，与梅氏丙酸杆菌HL的同源性为52.6%。观察到的肽段同源性分别为87.4%和54.3%。对29个实验室小鼠品系和斯氏小家鼠进行的Southern分析显示，在EcoRI和HindIII酶切中总共约有25kb的杂交片段和三个多态性片段。小鼠HL基因座（Hmgcl）定位于第4号染色体（Chr）：Pmv-19-12.6±3.6cM-Hmgcl-7.3±2.3cM-Xmv-8-1.5±1.0cM-Gpd-1。通过对人-仓鼠杂交细胞系的分析和原位杂交，将人类HL基因座（HMGCL）定位到1号染色体远端p区。
