Wang M G, Yi H, Hilfiker H, Carafoli E, Strehler E E, McBride O W
Laboratory of Biochemistry, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.
Cytogenet Cell Genet. 1994;67(1):41-5. doi: 10.1159/000133794.
The plasma membrane Ca2+ ATPases (PMCA) represent a highly conserved, widely dispersed, multigene family in eukaryotes consisting of at least four functional genes. The genes for PMCA isoforms 1 and 4 (ATP2B1 and ATP2B4) have been previously localized to human chromosomes 12q21-->q23 and 1q25-->q32, respectively. Based upon results of fluorescence in situ hybridization (FISH), analysis of somatic cell hybrids, and genetic linkage analyses, we now report localization of ATP2B3 (PMCA isoform 3) to human chromosome Xq28, and confirm the recent localization of ATP2B2 (PMCA isoform 2) to chromosome 3p26-->p25. In contrast to ATP2B1 and ATP2B4, recent studies have suggested tissue specific regulation of expression of both ATP2B2 and ATP2B3 particularly in the nervous system. The genes for several neurological and neuromuscular diseases have been assigned to the distal portion of Xq, and ATP2B3 is a candidate gene for these diseases.
质膜Ca2+ATP酶（PMCA）是真核生物中一个高度保守、广泛分布的多基因家族，至少由四个功能基因组成。PMCA亚型1和4（ATP2B1和ATP2B4）的基因先前已分别定位于人类染色体12q21→q23和1q25→q32。基于荧光原位杂交（FISH）结果、体细胞杂种分析和遗传连锁分析，我们现在报告ATP2B3（PMCA亚型3）定位于人类染色体Xq28，并确认ATP2B2（PMCA亚型2）最近定位于染色体3p26→p25。与ATP2B1和ATP2B4不同，最近的研究表明ATP2B2和ATP2B3的表达存在组织特异性调节，特别是在神经系统中。几种神经和神经肌肉疾病的基因已被定位于Xq的远端，ATP2B3是这些疾病的候选基因。
