Bateman J B, Klisak I, Kojis T, Mohandas T, Sparkes R S, Li T S, Applebury M L, Bowes C, Farber D B
Vision Genetics Center, Jules Stein Eye Institute, Los Angeles, California.
Genomics. 1992 Mar;12(3):601-3. doi: 10.1016/0888-7543(92)90454-z.
The gene encoding the beta-subunit of rod photoreceptor cGMP phosphodiesterase (gene symbol PDEB, homolog of the mouse rd gene) is mapped to human chromosome 4 using somatic cell hybrids and further localized to the chromosome band 4p16 using in situ hybridization. A mutation in the mouse gene underlies the recessive trait of retinal degeneration in the rd mouse. Thus, the human homolog is a candidate for lesions causing retinal degeneration.
编码视杆光感受器环磷酸鸟苷磷酸二酯酶β亚基的基因(基因符号PDEB,小鼠rd基因的同源物)利用体细胞杂种定位到人类4号染色体上,并通过原位杂交进一步定位到染色体带4p16。小鼠基因中的一个突变是rd小鼠视网膜退化隐性性状的基础。因此,人类同源物是导致视网膜退化损伤的一个候选基因。