All are true about Xeroderma Pigmentosum except
It is autosomal dominant inheritance
Due to defective DNA repair
Associated with squamous cell carcinoma
Thymine dimers
(A) It is autosomal dominant inheritance # XERODERNA PIGMENTOSUM (XP)> Is an autosomal recessive genetic disease.> The clinical syndrome includes marked sensitivity to sunlight (ultraviolet) with subsequent formation of multiple skin cancers and premature death.> The risk of developing skin cancer is increased 1000- to 2000-fold.> The inherited defect seems to involve the repair of damaged DNA, particularly thymine dimers.> Cells cultured from patients with xeroderma pigmentosum exhibit low activity for the nucleotide excision-repair process.> Seven complementation groups have been identified using hybrid cell analyses, so at least seven gene products (XPA-XPG) Are involved.> Two of these (XPA and XPC) are involved in recognition and excision.> XPB and XPD are helicases and, interestingly, are subunits of the transcription factor TFIIH.
Miscellaneous