HGM2006 S7 04 Ross

What sex did to X: 

What sex did to X Mark Ross, HGM2006 Helsinki

Sex chromosome evolution: 

Sex chromosome evolution autosomes X Y X Y

Outstanding features of the X chromosome: 

Outstanding features of the X chromosome X chromosome inactivation X-linked disease Reduced levels of heterozygosity Increased levels of linkage disequilibrium Enrichment for genes expressed in testis, particularly CT-antigens Enrichment for palindromic repeats Enrichment for interspersed repeats of the LINE1 class

LD in the human genomeThe International HapMap consortium, 2005: 

LD in the human genome The International HapMap consortium, 2005

Outstanding features of the X chromosome: 

Outstanding features of the X chromosome X chromosome inactivation X-linked disease Reduced levels of heterozygosity Increased levels of linkage disequilibrium Enrichment for genes expressed in testis, particularly CT-antigens Enrichment for palindromic repeats Enrichment for interspersed repeats of the LINE1 class

Sex chromosome evolution: 

Sex chromosome evolution Chicken 300 280 260 240 220 200 180 160 140 120 100 80 60 40 20 0 Human Mouse Wallaby Platypus Opossum MYR XX/XY XX/XY XX/XY XX/XY X1X1X2X2X3X3X4X4X5X5/ X1Y1X2Y2X3Y3X4Y4X5Y5 ZZ/ZW

Slide7: 

X added region (XAR) X conserved region (XCR) Xp Xq Autosomal origins of the human X chromosome Chicken chromosome 1q Chicken chromosome 4p

Slide8: 

Chicken chromosome 1q Chicken chromosome 4p X added region (XAR) X conserved region (XCR) Xp Xq Autosomal origins of the human X chromosome

Slide9: 

X added region (XAR) Xp Xq Autosomal origins of the human X chromosome X conserved region (XCR) Opossum sequence scaffolds UBE1 ARAF1 SYN1 TIMP OATL1 GATA1 SMCX ACRC PIN4 RS4X PHKA1 Scaffold 134

Evolutionary strata on the X chromosome: 

Evolutionary strata on the X chromosome

Evolutionary strata on the X chromosome: 

Evolutionary strata on the X chromosome 1 2 3 4 5 6 7 8 9 10 11 12 PAR1

Evolutionary strata on the X chromosome: 

Evolutionary strata on the X chromosome 1 2 3 4 5 6 7 8 9 10 11 12 PAR1

Sex chromosome evolution: 

Sex chromosome evolution autosomes ancestral mammal S1

LINE1 elements on the human X chromosome: 

LINE1 elements on the human X chromosome L1 S1 S2 S4 S3 PAR1 7% 9% 11% 20% 32% 34% S5 1 0 XIST 1 0

L1 levels in other mammals: 

L1 levels in other mammals

Slide16: 

X added region (XAR) Xp Xq Opossum sequence scaffolds X conserved region (XCR)

L1 levels in other mammals: 

L1 levels in other mammals

LINE1 elements on the human X chromosome: 

LINE1 elements on the human X chromosome L1 S1 S2 S4 S3 PAR1 7% 9% 11% 20% 32% 34% S5 1 0 XIST

Are compositional differences a reflection of mutational biases?: 

Are compositional differences a reflection of mutational biases?

L1 levels at chromosome ends: 

L1 levels at chromosome ends LINE1 L1P

Regional variation in L1P elements: 

Regional variation in L1P elements L1P count L1P length

LINE1 elements on the human X chromosome: 

LINE1 elements on the human X chromosome L1 S1 S2 S4 S3 PAR1 7% 9% 11% 20% 32% 34% S5 XIST 1 0

Acknowledgements: 

Acknowledgements Sanger Institute Darren Grafham Alison Coffey Kirsten McLay Gareth Howell Christine Burrows Christine Bird Frances Lovell Matt Jones Carol Scott Nigel Carter Mark Vaudin IMB, Jena Matthias Platzer Gaiping Wen Andre Rosenthal WUGSC Bob Fulton Rick Wilson Bob Waterston MPIMG, Berlin Ralf Sudbrak Hans Lehrach Sequence Analysis andamp; Gene Annotation Adam Frankish Kevin Howe David Jackson Jennifer Ashurst Matthew Hurles Dan Andrews Steven Searle Tim Hubbard Richard Durbin Mathias Platzer Hunt Willard Mary Schueler Stephan Beck John Sulston Jane Rogers David Bentley Mapping andamp; Sequencing Baylor College of Medicine Steve Scherer Donna Muzny Richard Gibbs Genome community