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Genomics. 1996 Jul 1;35(1):66-70.

Comparative mapping identifies the fusion point of an ancient mammalian X-autosomal rearrangement.

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School of Genetics and Human Variation, La Trobe University, Melbourne, Victoria, 3083, Australia.


Previous comparisons of gene location in the three major groups of mammals (eutherians, marsupials, and monotremes) have suggested that the long arm of the human X represents the ancestral mammalian X chromosome, whereas the short arm represents an autosomal region(s) recently added to the eutherian X chromosome. To identify the fusion point of this ancient X-autosome rearrangement, we have mapped four genes, three of which map near the centromere of the human Xp, in marsupials and in a monotreme. We found that ARAF1, ALAS2, and GATA1 are located on the X chromosome in marsupials, and ALAS2 and GATA1 are also located on the X in the platypus. This implies that the proximal short arm of the human X chromosome, including the centromere, was part of the ancestral mammalian X chromosome. The fusion point between the conserved region and the recently added regions therefore maps to human Xp11.23, although gene order on the human X indicates that there has been some rearrangement of this region.

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