Kalmykova A I, Shevelyov Y Y, Dobritsa A A, Gvozdev V A
Department of Animal Molecular Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow 123182, Kurchatov Square 46, Russia.
Proc Natl Acad Sci U S A. 1997 Jun 10;94(12):6297-302. doi: 10.1073/pnas.94.12.6297.
The acquisition of autosomal fertility genes has been proposed to be an important process in human Y chromosome evolution. For example, the Y-linked fertility factor DAZ (Deleted in Azoospermia) appears to have arisen after the transposition and tandem amplification of the autosomal DAZH gene. The Drosophila melanogaster Y chromosome contains tandemly repeated Su(Ste) units that are thought to affect male fertility as suppressors of the homologous X-linked Stellate repeats. Here we report the detection of a testis-expressed autosomal gene, SSL [Su(Ste)-like], that appears to be an ancestor of the Y-linked Su(Ste) units. SSL encodes a casein kinase 2 (CK2) beta-subunit-like protein. Its putative ORF shares extensive (45%) homology with the genuine beta-subunit of CK2 and retains the conserved C-terminal and Glu/Asp-rich domains that are essential for CK2 holoenzyme regulation. SSL maps within region 60D1-2 of D. melanogaster and D. simulans polytene chromosomes. We present evidence that SSL was derived from the genuine betaCK2 gene by reverse transcription. This event resulted in the loss of the first three introns in the coding region of the SSL ancestor gene. Evolutionary analysis indicates that SSL has evolved under selective pressure at the translational level. Its sequence, especially in the 3' region, is much closer to the Y-linked Su(Ste) tandem repeats than to the betaCK2 gene. These results suggest that the acquisition of testis-specific autosomal genes may be important for the evolution of Drosophila as well as human Y chromosomes.
常染色体生育基因的获得被认为是人类Y染色体进化中的一个重要过程。例如,Y连锁生育因子DAZ(无精子症缺失基因)似乎是在常染色体DAZH基因转座和串联扩增后出现的。黑腹果蝇的Y染色体包含串联重复的Su(Ste) 单元,这些单元被认为作为同源X连锁星状重复序列的抑制因子影响雄性生育力。在此,我们报告了一个睾丸表达的常染色体基因SSL [Su(Ste) 样] 的检测结果,该基因似乎是Y连锁Su(Ste) 单元的祖先。SSL编码一种酪蛋白激酶2(CK2)β亚基样蛋白。其推定的开放阅读框与CK2的真正β亚基具有广泛的(45%)同源性,并保留了对CK2全酶调节至关重要的保守C末端和富含Glu/Asp的结构域。SSL定位于黑腹果蝇和拟果蝇多线染色体的60D1-2区域内。我们提供的证据表明,SSL是通过逆转录从真正的βCK2基因衍生而来的。这一事件导致SSL祖先基因编码区的前三个内含子丢失。进化分析表明,SSL在翻译水平上受到选择压力的影响而进化。其序列,尤其是在3' 区域,与Y连锁的Su(Ste) 串联重复序列比与βCK2基因更为接近。这些结果表明,获得睾丸特异性常染色体基因可能对果蝇以及人类Y染色体的进化很重要。