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Allelic Variations of The XP Genes

Interactive repository of mutations and other allelic variations of the genes involved in the DNA repair disorders, Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS), Trichothiodystrophy (TTD), and other UV-sensitivity disorders. Any omitted data or new data may be submitted by using the on-line data submission form. There is a message board system to support discussions amongst those interested in XP and DNA Repair. RESOURCES * Educational module of the molecular biology of Nucleotide Excision Repair * Introduction to the DNA Repair disorders (XP, CS, TTD, UVs) * Background on each of the XP genes * A searchable database of mutations and sequence variations for the XP genes * Contact point for the submission of new mutation data * Discussion Forums and a Guest Book * Web Links to Additional Resources

URL: http://www.xpmutations.org

Resource ID: nif-0000-32042     Resource Type: Resource     Version: Latest Version

Keywords

nucleotide excision repair, dna, excision, function, gene, allele, cell, sensitivity, trichothiodystrophy, ultra violet, variation, xeroderma pigmentosum, pigment, mutation, allelic variation, dna repair

Additional Resource Types

Database, Data Repository

Related Disease

DNA repair disorder, Xeroderma Pigmentosum, Cockayne Syndrome, Trichothiodystrophy, UV-sensitivity disorder

Supercategory

Resource

Abbreviation

Allelic Variations of the XP Genes

Synonyms

xpmutations.org

Parent Organization

Funding Information

Xeroderma Pigmentosum Society, CN-156, ES08061, R01 ES06460, R25 RR12242, W-7405-ENG-48

Availability

The community can contribute to this resource

Species

human

Original Submitter

Anonymous

Version Status

Curated

Submitted On

12:00am September 8, 2010

Originated From

SciCrunch

Changes from Previous Version

  • Description was changed
  • Additional Resource Types was changed

Version 2

Created 3 weeks ago by Christie Wang

Version 1

Created 5 years ago by Anonymous

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

  • Cleaver JE
  • Hum. Mutat.
  • 1999 21

The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair. The majority of the genes have now been cloned and many mutations in the genes identified. The relationships between the distribution of mutations in the genes and the clinical presentations can be used for diagnosis and for understanding the functions and the modes of interaction among the gene products. The summary presented here represents currently known mutations that can be used as the basis for future studies of the structure, function, and biochemical properties of the proteins involved in this set of complex disorders, and may allow determination of the critical sites for mutations leading to different clinical manifestations. The summary indicates where more data are needed for some complementation groups that have few reported mutations, and for the groups for which the gene(s) are not yet cloned. These include the Xeroderma pigmentosum (XP) variant, the trichothiodystrophy group A (TTDA), and ultraviolet sensitive syndrome (UVs) groups. We also recommend that the XP-group E should be defined explicitly through molecular terms, because assignment by complementation in culture has been difficult. XP-E by this definition contains only those cell lines and patients that have mutations in the small subunit, DDB2, of a damage-specific DNA binding protein.