Human Molecular Genetics, Vol 7, 1-11, Copyright © 1998 by Oxford University Press
A Schwartz, DC Chan, LG Brown, R Alagappan, D Pettay, C Disteche, B McGillivray, A de la Chapelle and DC Page
The human X and Y chromosomes share many blocks of similar DNA sequence. We
conducted mapping and nucleotide sequencing studies of extensive,
multi-megabase homologies between Yp and Xq21, which do not recombine
during male meiosis. We confirmed and built upon previous evidence that a
Yp inversion had occurred during evolution: a single contiguous segment of
Xq21 is homologous to two non-contiguous segments of Yp. We precisely
defined and sequenced the inversion breakpoints, obtaining evidence that
the inversion was mediated by recombination between LINE-1 elements in
otherwise non-homologous regions. This inversion appears to have followed a
single transposition of an approximately 4 Mb segment from the X to the Y
chromosome. These events jointly account for the present arrangement of
Yp-Xq21 homologous sequences. Based on Southern blotting studies of
primates and of humans drawn from diverse populations, we conclude that
both the X-Y transposition and the subsequent, LINE-mediated Yp inversion
occurred after the divergence of hominid and chimp lineages but before the
radiation of extant human populations. This evolutionary scenario is
consistent with our finding of 99.3 +/- 0.2% nucleotide identity between
the X and Y chromosomes within the transposed region, which suggests that
the transposition occurred approximately 3-4 million years ago, near the
time of emergence of Homo . Comparative sequencing of the entire human X
and Y chromosomes may reveal a succession of transpositions, inversions and
other rearrangements underlying the complex pattern of sequence
similarities between the present-day sex chromosomes. With the possible
exception of cubitus valgus, phenotypic features of Turner syndrome are
absent in individuals monosomic for Yp- Xq21 homologous sequences,
suggesting that most of the critical 'Turner genes' are found elsewhere on
the X and Y chromosomes.
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Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination
Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, MA 02142, USA.
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