54 Result(s)

Article

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat

Fragile X syndrome is associated with massive expansion of a CGG trinucleotjde repeat within the FMR–1 gene and transcriptional silencing of the gene due to abnormal methylation. Partial cDNA sequence of the h...

Claude T. Ashley, James S. Sutcliffe, Catherine B. Kunst… in Nature Genetics (1993)

Article

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tr...

Evan E. Eichler, Jeanette J.A. Holden, Bradley W. Popovich… in Nature Genetics (1994)

Article

Evolution of the cryptic FMR1 CGG repeat

We have sequenced the 5′ untranslated region of the orthologous FMR1 gene from 44 species of mammals. The CGG repeat is present in each species, suggesting conservation of the repeat over 150 million years of mam...

Evan E. Eichler, Catherine B. Kunst, Kellie A. Lugenbeel… in Nature Genetics (1995)

Article

Segmental duplications and the evolution of the primate genome

Initial human genome sequence analysis has revealed large segments of nearly identical sequence in particular chromosomal regions. The recent origin of these segments and their abundance (∼5%) has challenged i...

Rhea Vallente Samonte, Evan E. Eichler in Nature Reviews Genetics (2002)

Article

An assessment of the sequence gaps: Unfinished business in a finished human genome

Article

Complex SNP-related sequence variation in segmental genome duplications

There is uncertainty about the true nature of predicted single-nucleotide polymorphisms (SNPs) in segmental duplications (duplicons) and whether these markers genuinely exist at increased density as indicated ...

David Fredman, Stefan J White, Susanna Potter, Evan E Eichler… in Nature Genetics (2004)

Article

Fine-scale structural variation of the human genome

Inversions, deletions and insertions are important mediators of disease and disease susceptibility¹. We systematically compared the human genome reference sequence with a second genome (represented by fosmid pair...

Eray Tuzun, Andrew J Sharp, Jeffrey A Bailey, Ra**der Kaul… in Nature Genetics (2005)

Article

Widening the spectrum of human genetic variation

SNP genoty** platforms have been used to discover ∼1,000 deletion structural variants within the human genome, with median lengths ranging from 500 bp to 10.5 kb. Analyses of a subset of these provide compel...

Evan E Eichler in Nature Genetics (2006)

Article

Primate segmental duplications: crucibles of evolution, diversity and disease

Article

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investig...

Andrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan… in Nature Genetics (2006)

Article

Mutational and selective effects on copy-number variants in the human genome

Comprehensive descriptions of large insertion/deletion or segmental duplication polymorphisms (SDs) in the human genome have recently been generated. These annotations, known collectively as structural or copy...

Gregory M Cooper, Deborah A Nickerson, Evan E Eichler in Nature Genetics (2007)

Article

Challenges and standards in integrating surveys of structural variation

There has been an explosion of data describing newly recognized structural variants in the human genome. In the flurry of reporting, there has been no standard approach to collecting the data, assessing its qu...

Stephen W Scherer, Charles Lee, Ewan Birney, David M Altshuler… in Nature Genetics (2007)

Article

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution

Human segmental duplications are hotspots for nonallelic homologous recombination leading to genomic disorders, copy-number polymorphisms and gene and transcript innovations. The complex structure and history ...

Zhaoshi Jiang, Haixu Tang, Mario Ventura, Maria Francesca Cardone… in Nature Genetics (2007)

Article

Closing gaps in the human genome with fosmid resources generated from multiple individuals

The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. ...

Donald Bovee, Yang Zhou, Eric Haugen, Zaining Wu, Hillary S Hayden… in Nature Genetics (2008)

Article

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo dele...

Andrew J Sharp, Heather C Mefford, Kelly Li, Carl Baker, Cindy Skinner… in Nature Genetics (2008)

Article

Mouse segmental duplication and copy number variation

Evan Eichler and colleagues assess copy number variation of the C57BL/6J duplicated regions in 15 mouse strains used for genetic association studies. They report that mice show comparable copy number polymorph...

**nwei She, Ze Cheng, Sebastian Zöllner, Deanna M Church, Evan E Eichler in Nature Genetics (2008)

Article

Evolutionary toggling of the MAPT 17q21.31 inversion region

Evan Eichler and colleagues present a sequence assembly of the inverted H2 haplotype of human chromosome 17q21.31 and show that the inversion is polymorphic in other great ape species. Their analyses suggest t...

Michael C Zody, Zhaoshi Jiang, Hon-Chung Fung, Francesca Antonacci… in Nature Genetics (2008)

Article

Systematic assessment of copy number variant detection via genome-wide SNP genoty**

Evan Eichler and colleagues present an analysis of how well current commercial SNP platforms accurately capture copy number variants (CNVs). Although they were able accurately predict from Illumina Human 1M ge...

Gregory M Cooper, Troy Zerr, Jeffrey M Kidd, Evan E Eichler… in Nature Genetics (2008)

Article

Human uniqueness: genome interactions with environment, behaviour and culture