Grützner Frank, Rens Willem, Tsend-Ayush Enkhjargal, El-Mogharbel Nisrine, O'Brien Patricia C M, Jones Russell C, Ferguson-Smith Malcolm A, Marshall Graves Jennifer A
Research School of Biological Sciences, Australian National University, GPO Box 475, Canberra, Australian Capital Territory 2601, Australia.
Nature. 2004 Dec 16;432(7019):913-7. doi: 10.1038/nature03021. Epub 2004 Oct 24.
Two centuries after the duck-billed platypus was discovered, monotreme chromosome systems remain deeply puzzling. Karyotypes of males, or of both sexes, were claimed to contain several unpaired chromosomes (including the X chromosome) that form a multi-chromosomal chain at meiosis. Such meiotic chains exist in plants and insects but are rare in vertebrates. How the platypus chromosome system works to determine sex and produce balanced gametes has been controversial for decades. Here we demonstrate that platypus have five male-specific chromosomes (Y chromosomes) and five chromosomes present in one copy in males and two copies in females (X chromosomes). These ten chromosomes form a multivalent chain at male meiosis, adopting an alternating pattern to segregate into XXXXX-bearing and YYYYY-bearing sperm. Which, if any, of these sex chromosomes bears one or more sex-determining genes remains unknown. The largest X chromosome, with homology to the human X chromosome, lies at one end of the chain, and a chromosome with homology to the bird Z chromosome lies near the other end. This suggests an evolutionary link between mammal and bird sex chromosome systems, which were previously thought to have evolved independently.
鸭嘴兽被发现两个世纪后,单孔目动物的染色体系统仍然令人深感困惑。雄性或雌雄两性的核型据称包含几条不成对的染色体(包括X染色体),这些染色体在减数分裂时形成多染色体链。这种减数分裂链存在于植物和昆虫中,但在脊椎动物中很少见。几十年来,鸭嘴兽的染色体系统如何决定性别并产生平衡的配子一直存在争议。在这里,我们证明鸭嘴兽有五条雄性特异性染色体(Y染色体)和五条染色体,在雄性中为单拷贝,在雌性中为双拷贝(X染色体)。这十条染色体在雄性减数分裂时形成多价链,采用交替模式分离成携带XXXXX的精子和携带YYYYY的精子。这些性染色体中是否有任何一条携带一个或多个性别决定基因仍然未知。最大的X染色体与人类X染色体同源,位于链的一端,而与鸟类Z染色体同源的染色体则位于另一端附近。这表明哺乳动物和鸟类的性染色体系统之间存在进化联系,而此前人们认为它们是独立进化的。