Evidence of amino acid diversity-enhancing selection within humans and among primates at the candidate sperm-receptor gene PKDREJ

Article Abstract:

The PKDREJ sequence is determined from human and nonhuman primates in order to conduct statistical tests of inter- and intraspecific sequence variation. The results have shown that PKDREJ has demonstrated characteristics expected for a sperm receptor for the mammalian egg-coat zona pellucida (ZP) glycoproteins.

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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

Article Abstract:

The article discusses the identification of the sequence alterations in the cytochrome P450-7B1 (CYP7B1), the gene which is found to be highly associated with the hereditary spastic paraplegia (HSP). The results prove that such alterations lead to defective cholesterol homeostasis in motor-neuron degeneration.

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Simultaneouly correcting for population stratification and for genotyping error in case-control association studies

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A method of simultaneously correcting for the bias arising population stratification and for genotyping error in case control studies was developed. Thus the corrected test is robust against misspecification of the genetic model.

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