The DNA of telomeres—the terminal DNA-protein complexes of chromosomes—differs
notably from other DNA sequences in both structure and function. Recent work has …

Mutation of the human genome results in three classes of genomic variation: single
nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some …

Telomere crisis occurs during tumorigenesis when depletion of the telomere reserve leads
to frequent telomere fusions. The resulting dicentric chromosomes have been proposed to …

We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in
seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A) …

Immortalization of human cells is often associated with reactivation of telomerase, a
ribonucleoprotein enzyme that adds TTAGGG repeats onto telomeres and compensates for …

Yeast cells lacking a functional EST7 gene show progressive shortening of the terminal
GIs3T telomeric repeats and a parallel increase in the frequency of cell death. Although the …

Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized
by abnormal skin pigmentation, leukoplakia and nail dystrophy,. X-linked, autosomal …

In yeast, telomere position effect (TPE) results in the reversible silencing of genes near
telomeres. Here we demonstrate the presence of TPE in human cells. HeLa clones …

The complete nucleotide sequence of the 957-kb DNA of the human immunoglobulin heavy
chain variable (VH) region locus was determined and 43 novel VH segments were …

▪ Abstract Telomeres are DNA and protein structures that form complexes protecting the
ends of chromosomes. Understanding of the mechanisms maintaining telomeres and …