%0 Journal Article %J Nature %D 2003 %T The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. %A Skaletsky, Helen %A Kuroda-Kawaguchi, Tomoko %A Minx, Patrick J %A Cordum, Holland S %A Hillier, LaDeana %A Brown, Laura G %A Repping, Sjoerd %A Pyntikova, Tatyana %A Ali, Johar %A Bieri, Tamberlyn %A Chinwalla, Asif %A Delehaunty, Andrew %A Delehaunty, Kim %A Du, Hui %A Fewell, Ginger %A Fulton, Lucinda %A Fulton, Robert %A Graves, Tina %A Hou, Shun-Fang %A Latrielle, Philip %A Leonard, Shawn %A Mardis, Elaine %A Maupin, Rachel %A McPherson, John %A Miner, Tracie %A Nash, William %A Nguyen, Christine %A Ozersky, Philip %A Pepin, Kymberlie %A Rock, Susan %A Rohlfing, Tracy %A Scott, Kelsi %A Schultz, Brian %A Strong, Cindy %A Tin-Wollam, Aye %A Yang, Shiaw-Pyng %A Waterston, Robert H %A Wilson, Richard K %A Rozen, Steve %A Page, David C %K Chromosomes, Human, X %K Chromosomes, Human, Y %K Crossing Over, Genetic %K DNA Transposable Elements %K Euchromatin %K Evolution, Molecular %K Female %K Gene Amplification %K Gene Conversion %K Genes %K Heterochromatin %K Humans %K In Situ Hybridization, Fluorescence %K Male %K Models, Genetic %K Multigene Family %K Organ Specificity %K Pseudogenes %K Sequence Homology, Nucleic Acid %K Sex Characteristics %K Sex Determination Processes %K Species Specificity %K Testis %K Transcription, Genetic %K Transducin %X

The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome. The X-degenerate sequences are remnants of ancient autosomes from which the modern X and Y chromosomes evolved. The ampliconic class includes large regions (about 30% of the MSY euchromatin) where sequence pairs show greater than 99.9% identity, which is maintained by frequent gene conversion (non-reciprocal transfer). The most prominent features here are eight massive palindromes, at least six of which contain testis genes.

%B Nature %V 423 %P 825-37 %8 2003 Jun 19 %G eng %N 6942 %1 https://www.ncbi.nlm.nih.gov/pubmed/12815422?dopt=Abstract %R 10.1038/nature01722