Expression of L cone pigment gene subtypes in females.
Expression of L cone pigment gene subtypes in females.
复制标题
L 锥体色素基因亚型在女性中的表达。
DOI：
10.1016/s0042-6989(98)00076-5
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发表时间：
1998
期刊：
影响因子：
1.8
通讯作者：
Neitz,J
中科院分区：
文献类型：
--
作者：
Neitz,M;Kraft,TW;Neitz,J
L色素的光谱亚型由氨基酸位置180处的丝氨酸/丙氨酸二型性产生。携带不同亚型基因的X染色体在正常男性中出现的频率大致相同。女性有两条X染色体;因此，大约50%的女性将继承两种L色素亚型的基因，尽管在不同的X染色体上。在这些女性中，X-失活预期产生大约相等数量的LS 180和LA 180视锥细胞，以及中（M）和短（S）波长敏感视锥细胞，总共四种光谱不同的视锥细胞类型。与此预期一致，我们发现几乎相等的基因表达的两个光谱不同的亚型L色素在五个女性视网膜检查。
Spectral subtypes of L pigment are produced by a serine/alanine dimorphism at amino acid position 180. X-chromosomes that carry genes for the different subtypes occur with about equal frequency in normal men. Females have two X-chromosomes; thus, about 50% of women will inherit genes for both L pigment subtypes, although on different X-chromosomes. In these women, X-inactivation is expected to produce about equal numbers of LS180and LA180cones in addition to middle (M) and short (S) wavelength-sensitive cones to total four spectrally distinct cone types. Consistent with this expectation we found nearly equal expression of genes for two spectrally distinct subtypes of L pigment in five of nine female retinas examined.