Mbikay M, Seidah N G, Chrétien M, Simpson E M
Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Genomics. 1995 Mar 1;26(1):123-9. doi: 10.1016/0888-7543(95)80090-9.
The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rodent somatic cell hybrids, most of which contained a single human chromosome each. The gene for PC4 (Pcsk4 locus) mapped to mouse chromosome 10, close to the Adn (adipsin, a serine protease) locus and near the Amh (anti-müllerian hormone) locus; in human, the gene was localized to chromosome 19. The gene for PC5 (Pcsk5 locus) mapped to mouse chromosome 19 close to the Lpc1 (lipocortin-1) locus and, in human, was localized to chromosome 9. The gene for PACE4 (Pcsk6 locus) mapped to mouse chromosome 7, at a distance of 13 cM from the Pcsk3 locus, which specifies furin, another member of this family of enzymes previously mapped to this chromosome. This is in concordance with the known close proximity of these two loci in the homologous region on human chromosome 15q25-qter. Pcsk3 and Pcsk6 mapped to a region of mouse chromosome 7 that has been associated cytogenetically with postnatal lethality in maternal disomy, suggesting that these genes might be candidates for imprinting.
通过对（C57BL/6JEi×SPRET/Ei）F1×SPRET/Ei回交的DNA样本进行RFLP分析，将三种枯草杆菌蛋白酶/克新样前体蛋白转化酶PC4、PC5和PACE4的基因定位到小鼠染色体上。通过对人-啮齿动物体细胞杂种的DNA样本进行Southern印迹分析确定了人类同源基因的染色体位置，其中大多数杂种各自仅含有一条人类染色体。PC4基因（Pcsk4位点）定位于小鼠的10号染色体，靠近Adn（脂肪酶，一种丝氨酸蛋白酶）位点且靠近Amh（抗苗勒管激素）位点；在人类中，该基因定位于19号染色体。PC5基因（Pcsk5位点）定位于小鼠的19号染色体，靠近Lpc1（脂皮质蛋白-1）位点，在人类中定位于9号染色体。PACE4基因（Pcsk6位点）定位于小鼠的7号染色体，距离Pcsk3位点13 cM，Pcsk3位点编码弗林蛋白酶，该酶家族的另一个成员先前已定位到该染色体上。这与人类15q25-qter同源区域中这两个位点已知的紧密相邻一致。Pcsk3和Pcsk6定位于小鼠7号染色体的一个区域，该区域在细胞遗传学上与母体二体性中的产后致死性相关，表明这些基因可能是印记的候选基因。
