Molecular mechanisms of exon shuffling: illegitimate recombination

Rijk, Anke van; Bloemendal, H.

doi:10.1007/978-94-010-0229-5_13

Cited by 29 publications

(14 citation statements)

References 59 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Transposable elements (see Finnegan, 1989) were not detected (using http:// repeatmasker.org; version 20040306-web), such that they appear not to be involved, although accumulated mutations may prevent the detection of relic transposable element sequences. It is possible that the different sequence elements in the introns and some exon regions of hcstk (such as in the N-terminal header domain) compared with par-1 may relate to billegitimateQ recombination events (i.e., recombination occurring between non-or weakly homologous sequences; van Rijk and Bloemendal, 2003), with selective pressure dmaintainingT the overall size of the gene. Nonetheless, it is unclear whether illegitimate recombination relates to the additional introns interspersed between the two multi-exon regions of hcstk (within the catalytic and spacer domains).…”

Section: Discussionmentioning

confidence: 99%

Genomic organization and expression analysis for hcstk, a serine/threonine protein kinase gene of Haemonchus contortus, and comparison with Caenorhabditis elegans par-1

Nikolaou

Hartman

Nisbet

et al. 2004

Gene

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Genomic organization and expression analysis for hcstk, a serine/threonine protein kinase gene of Haemonchus contortus, and comparison with Caenorhabditis elegans par-1

Nikolaou

Hartman

Nisbet

et al. 2004

Gene

View full text Add to dashboard Cite

“…between sister chromatids of the same chromosome. Two main types of recombination events are currently recognized: homologous unequal recombination between gene sequences or repetitive sequence elements (Ringpfeil et al, 2001), and non-homologous (illegitimate) recombination between DNA sequences with little or no homology (van Rijk and Bloemendal, 2003). Mutation Ex11_Ex18dup in LAMC2 is the result of non-homologous recombination, because little homology (o50%) is present in the breakpoint regions.…”

Section: Discussionmentioning

confidence: 99%

Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa

Posteraro

Luca

Meneguzzi

et al. 2004

Journal of Investigative Dermatology

View full text Add to dashboard Cite

Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by dermal-epidermal separation that is caused by mutations in the genes encoding hemidesmosomal components and laminin-5, the major epithelial adhesion ligand. Here, we report on the mutational analysis of LAMA3, LAMB3, and LAMC2 genes encoding laminin-5 chains in 19 Italian patients, 11 affected with the severe Herlitz (H JEB) and eight with the mild non-Herlitz variant of JEB (non-H JEB). Eighteen mutations, seven of which were novel, were identified and their consequences analyzed at the mRNA and protein level. Premature termination codon mutations in both alleles of LAMB3 or LAMC2 genes were found in nine of the 11 H JEB patients, with a prevalence of mutations in LAMC2. In one case, a homozygous frameshift mutation in LAMB3 was associated to illegitimate splicing leading to non-H JEB. One H JEB patient showed a large intragenic duplication within LAMC2, a genetic defect so far uncovered in laminin-5 genes. Splicing or missense mutations, were prevalent in non-H JEB patients. Collectively, five mutations appeared to be frequent in laminin-5 JEB patients: R635X, 29insC, E210K, W143X in LAMB3 and R95X in LAMC2. These recurrent mutations account for approximately 44% of laminin-5 JEB alleles in Italian patients.

show abstract

“…They are also found in a number of different domain architectures. The hypothesis is that the members of this superfamily have been shuffled among different proteins mainly by exon shuffling through intronic recombination [7,27]. Exon shuffling is a process of insertion of exon(s) coding for new domains in the ancestral gene introns.…”

Section: Discussionmentioning

confidence: 99%

The evolution of protein domain families

Buljan

Bateman

2009

Biochemical Society Transactions

115

100

View full text Add to dashboard Cite

Protein domains are the common currency of protein structure and function. Over 10 000 such protein families have now been collected in the Pfam database. Using these data along with animal gene phylogenies from TreeFam allowed us to investigate the gain and loss of protein domains. Most gains and losses of domains occur at protein termini. We show that the nature of changes is similar after speciation or duplication events. However, changes in domain architecture happen at a higher frequency after gene duplication. We suggest that the bias towards protein termini is largely because insertion and deletion of domains at most positions in a protein are likely to disrupt the structure of existing domains. We can also use Pfam to trace the evolution of specific families. For example, the immunoglobulin superfamily can be traced over 500 million years during its expansion into one of the largest families in the human genome. It can be shown that this protein family has its origins in basic animals such as the poriferan sponges where it is found in cell-surface-receptor proteins. We can trace how the structure and sequence of this family diverged during vertebrate evolution into constant and variable domains that are found in the antibodies of our immune system as well as in neural and muscle proteins.

show abstract

Molecular mechanisms of exon shuffling: illegitimate recombination

Cited by 29 publications

References 59 publications

Genomic organization and expression analysis for hcstk, a serine/threonine protein kinase gene of Haemonchus contortus, and comparison with Caenorhabditis elegans par-1

Genomic organization and expression analysis for hcstk, a serine/threonine protein kinase gene of Haemonchus contortus, and comparison with Caenorhabditis elegans par-1

Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa

The evolution of protein domain families

Contact Info

Product

Resources

About