Contents
Preface ............................................................................................................................ v
Contributors................................................................................................................... ix
vii
PART I INTRODUCTION
1 The CMT1A Duplication: A Historical Perspective Viewed
From Two Sides of an Ocean ....................................................... 3
James R. Lupski and Vincent Timmerman
PART II GENOMIC STRUCTURE
2 Alu Repetitive Elements ................................................................. xx
Prescott L. Deininger
3 LINE Elements and Reshaping the Genome .................................. xx
Amy E. Hulme, Deanna A. Kulpa, Jos Luis Garcia, Perez,
and John V. Moran
4 Other Repetitive Elements .............................................................. xx
Jerzy Jurka and Adam Pavlicek
5 Segmental Duplications .................................................................. xx
Andy Sharp and Evan E. Eichler
6 Non-B DNA and Chromosomal Rearrangements ........................ xxx
Albino Bacolla and Robert D. Wells
7 Olfactory Receptor Genes............................................................. xxx
Idan Menashe, Ester Feldmesser, and Doron Lancet
7 Genomic Organization and Function of Human
Centromeres .............................................................................. xxx
Huntington F. Willard and Katherine Rudd
PART III GENOME EVOLUTION
9 Primate Chromosome Evolution .................................................. xxx
Stefan Møller
10 Genome Plasticity in Evolution .................................................... xxx
Mariano Rocchi and Nicoletta Archidiacono
PART IV GENOMIC REARRANGEMENTS AND DISEASE TRAITS
11 CMT1A/HNPP .............................................................................. xxx
Vincent Timmerman and James R. Lupski
12 SMS/dup(17)(p11.2p11.2) ............................................................ xxx
Pawel Stankiewicz, Weimin Bi, and James R. Lupski
13 DiGeorge/Velo-Cardio-Facial Syndrome .................................... xxx
Bernice E. Morrow
viii Contents
14 Neurofibromatosis 1 ..................................................................... xxx
Karen Stephens
15 Williams-Beuren Syndrome ......................................................... xxx
Stephen W. Scherer and Lucy R. Osborne
16 Sotos Syndrome ............................................................................ xxx
Naomichi Matsumoto and Naohiro Kurotaki
17 X Chromosome Microdeletions.................................................... xxx
Pauline Yen
18 Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2:
Mechanistic Similarities With and Differences
From Charcot-Marie-Tooth Disease Type 1A/Hereditary
Neuropathy With Liability to Pressue Palsies ......................... xxx
Ken Inoue
19 Azoospermia ................................................................................. xxx
Chris Tyler-Smith and Matt Hurles
20 Inversion Chromosomes ............................................................... xxx
Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio,
and Tiziano Pramparo
21 Terminal Deletions Including 1p36 .............................................. xxx
Blake C. Ballif and Lisa G. Shaffer
22 inv dup(15) and inv dup(22) ......................................................... xxx
Heather E. McDermid and Rachel Wevrick
23 Somatic Rearrangements .............................................................. xxx
Thoas Fioretos
PART V FUNCTIONAL ASPECTS OF GENOME STRUCTURE
24 Recombination Hotspots in Nonallelic Homologous
Recombination .......................................................................... xxx
Matt Hurles and James R. Lupski
25 Position Effect ............................................................................... xxx
Pawel Stankiewicz
PART VI GENOMIC DISORDERS: MODELING AND ASSAYS
26 Chromosome Engineered Mouse Models .................................... xxx
Pentao Liu
27 Array CGH to Detect Genomic Rearrangements ......................... xxx
Nigel P. Carter, Heike Fiegler, Susan Gribble,
and Richard Redon
PART VII GENOMIC DISORDERS AND GENOME ARCHITECTURE
28 Well-Characterized Rearrangement-Based Diseases
and Genome Structural Features at the Locus ......................... xxx
Pawel Stankiewicz and James R. Lupski
Index