| Title | Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2002 |
| Authors | Wang, LL, Worley, K, Gannavarapu, A, Chintagumpala, MM, Levy, ML, Plon, SE |
| Journal | Am J Hum Genet |
| Volume | 71 |
| Issue | 1 |
| Pagination | 165-7 |
| Date Published | 2002 Jul |
| ISSN | 0002-9297 |
| Keywords | 3T3 Cells, Adenosine Triphosphatases, Animals, Base Sequence, DNA, DNA Helicases, Humans, Introns, Mice, Molecular Sequence Data, Mutation, RecQ Helicases, Reverse Transcriptase Polymerase Chain Reaction, RNA Splicing, Rothmund-Thomson Syndrome, Transfection |
| Abstract | Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8. The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with RTS who has a novel 11-bp intronic deletion, and we show that this mutation results in a 66-bp intron too small for proper splicing. Constraint on intron size may represent a general mutational mechanism, since human-genome analysis reveals that approximately 15% of genes have introns <100 bp and are therefore susceptible to size constraint. Thus, monitoring of intron size may allow detection of mutations missed by exon-by-exon approaches.
|
| DOI | 10.1086/341234 |
| Alternate Journal | Am J Hum Genet |
| PubMed ID | 12016592 |
| PubMed Central ID | PMC384974 |
| Grant List | U54 HG003273 / HG / NHGRI NIH HHS / United States |