Matches in SemOpenAlex for { <https://semopenalex.org/work/W2124736833> ?p ?o ?g. }
- W2124736833 endingPage "e81977" @default.
- W2124736833 startingPage "e81977" @default.
- W2124736833 abstract "The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV. Concerted evolution caused by non-allelic gene conversion has been described in great ape CYP21 genes, and the same conversion activity is responsible for a serious genetic disorder of CYP21A2, congenital adrenal hyperplasia (CAH). In the current study, 33 CYP21A2 haplotype variants encoding 6 protein variants were determined from a European population. CYP21A2 was shown to be one of the most diverse human genes (HHe=0.949), but the diversity of intron 2 was greater still. Contrary to previous findings, the evolution of intron 2 did not follow concerted evolution, although the remaining part of the gene did. Fixed sites (different fixed alleles of sites in human CYP21 paralogues) significantly accumulated in intron 2, indicating that the excess of fixed sites was connected to the lack of effective non-allelic conversion and concerted evolution. Furthermore, positive selection was presumably focused on intron 2, and possibly associated with the previous genetic features. However, the positive selection detected by several neutrality tests was discerned along the whole gene. In addition, the clear signature of negative selection was observed in the coding sequence. The maintenance of the CYP21 enzyme function is critical, and could lead to negative selection, whereas the presumed gene regulation altering steroid hormone levels via intron 2 might help fast adaptation, which broadly characterizes the genes of human CNVs responding to the environment." @default.
- W2124736833 created "2016-06-24" @default.
- W2124736833 creator A5031942816 @default.
- W2124736833 creator A5037249234 @default.
- W2124736833 creator A5044909317 @default.
- W2124736833 creator A5057781536 @default.
- W2124736833 creator A5064774239 @default.
- W2124736833 creator A5065277885 @default.
- W2124736833 creator A5075024061 @default.
- W2124736833 creator A5078959215 @default.
- W2124736833 creator A5089423685 @default.
- W2124736833 date "2013-11-29" @default.
- W2124736833 modified "2023-09-27" @default.
- W2124736833 title "Both Positive and Negative Selection Pressures Contribute to the Polymorphism Pattern of the Duplicated Human CYP21A2 Gene" @default.
- W2124736833 cites W1501643305 @default.
- W2124736833 cites W1647506547 @default.
- W2124736833 cites W1659693769 @default.
- W2124736833 cites W1843876176 @default.
- W2124736833 cites W1906049963 @default.
- W2124736833 cites W1916408349 @default.
- W2124736833 cites W1964331183 @default.
- W2124736833 cites W1964547306 @default.
- W2124736833 cites W1972673599 @default.
- W2124736833 cites W1977475884 @default.
- W2124736833 cites W1982603712 @default.
- W2124736833 cites W1987882116 @default.
- W2124736833 cites W1987975628 @default.
- W2124736833 cites W1988109653 @default.
- W2124736833 cites W1990074132 @default.
- W2124736833 cites W1992061966 @default.
- W2124736833 cites W1992249022 @default.
- W2124736833 cites W1997108579 @default.
- W2124736833 cites W1997759222 @default.
- W2124736833 cites W2005412543 @default.
- W2124736833 cites W2019591778 @default.
- W2124736833 cites W2021714239 @default.
- W2124736833 cites W2034951669 @default.
- W2124736833 cites W2036609554 @default.
- W2124736833 cites W2036626452 @default.
- W2124736833 cites W2037420358 @default.
- W2124736833 cites W2038464976 @default.
- W2124736833 cites W2044833878 @default.
- W2124736833 cites W2046233233 @default.
- W2124736833 cites W2052417489 @default.
- W2124736833 cites W2055678902 @default.
- W2124736833 cites W2057741660 @default.
- W2124736833 cites W2060425093 @default.
- W2124736833 cites W2065103866 @default.
- W2124736833 cites W2076191074 @default.
- W2124736833 cites W2077572031 @default.
- W2124736833 cites W2083878136 @default.
- W2124736833 cites W2084805548 @default.
- W2124736833 cites W2085602910 @default.
- W2124736833 cites W2091181646 @default.
- W2124736833 cites W2092030892 @default.
- W2124736833 cites W2095886196 @default.
- W2124736833 cites W2096014252 @default.
- W2124736833 cites W2096551935 @default.
- W2124736833 cites W2096791516 @default.
- W2124736833 cites W2098277647 @default.
- W2124736833 cites W2100444509 @default.
- W2124736833 cites W2100449089 @default.
- W2124736833 cites W2100988728 @default.
- W2124736833 cites W2103111028 @default.
- W2124736833 cites W2103677370 @default.
- W2124736833 cites W2110755408 @default.
- W2124736833 cites W2111329465 @default.
- W2124736833 cites W2116668053 @default.
- W2124736833 cites W2118780696 @default.
- W2124736833 cites W2119638267 @default.
- W2124736833 cites W2120857320 @default.
- W2124736833 cites W2121434639 @default.
- W2124736833 cites W2122004833 @default.
- W2124736833 cites W2125300654 @default.
- W2124736833 cites W2127112450 @default.
- W2124736833 cites W2127178674 @default.
- W2124736833 cites W2128296317 @default.
- W2124736833 cites W2131306424 @default.
- W2124736833 cites W2132632499 @default.
- W2124736833 cites W2132652804 @default.
- W2124736833 cites W2133148918 @default.
- W2124736833 cites W2134599124 @default.
- W2124736833 cites W2135707678 @default.
- W2124736833 cites W2136348348 @default.
- W2124736833 cites W2137015675 @default.
- W2124736833 cites W2140784970 @default.
- W2124736833 cites W2141008678 @default.
- W2124736833 cites W2144141060 @default.
- W2124736833 cites W2144690533 @default.
- W2124736833 cites W2149970733 @default.
- W2124736833 cites W2150309666 @default.
- W2124736833 cites W2152969276 @default.
- W2124736833 cites W2154595175 @default.
- W2124736833 cites W2154606824 @default.
- W2124736833 cites W2154845780 @default.
- W2124736833 cites W2156180496 @default.
- W2124736833 cites W2157149092 @default.
- W2124736833 cites W2158516394 @default.