ERCC5
پروتئین ترمیم کننده دیانای مکمل سلولهای ایکسپی-جی (انگلیسی: DNA repair protein complementing XP-G cells) یک پروتئین است که در انسان توسط ژن «ERCC5» کُدگذاری میشود.[۵][۶]
این پروتئین نقش مهمی در فرایند ترمیم گسیختگی نوکلئوتید و آسیبهای وارده به دیانای در اثر اشعهٔ ماورا بنفش خورشید دارد.
اهمیت بالینی
جهش در ژن «XPA» سبب بروز بیماری نادر گزرودرما پیگمنتوزوم میشود که طی آن فرد در صورت مواجهه با اشعهٔ ماورا بنفش نور خورشید (حتی در سایه یا درون اتاق) دچار سرطان پوست میشود. جهش در این ژن همچنین میتواند منجر به خمیدگی مفاصل[۷] و سندرم کاکین یا سندرم مغزی-چشمی-چهرهای-اسکلتی نوزادی کُشنده شود.[۸]
دیده شده در موشها، جهش این ژن سبب کاشکسی، پوکی استخوان، آسیبهای کبدی-مغزی و سالخوردگی میشود.[۸]
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCh38: Ensembl release 89: ENSG00000134899 – Ensembl, May 2017
- ↑ ۲٫۰ ۲٫۱ ۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000026048 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Samec S, Jones TA, Corlet J, Scherly D, Sheer D, Wood RD, Clarkson SG (May 1994). "The human gene for xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization". Genomics. 21 (1): 283–5. doi:10.1006/geno.1994.1261. PMID 8088806.
- ↑ "Entrez Gene: ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))".
- ↑ Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH (July 2014). "A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation". American Journal of Medical Genetics. Part A. 164A (7): 1777–83. doi:10.1002/ajmg.a.36506. PMID 24700531. S2CID 8023991.
- ↑ ۸٫۰ ۸٫۱ Barnhoorn S, Uittenboogaard LM, Jaarsma D, Vermeij WP, Tresini M, Weymaere M, Menoni H, Brandt RM, de Waard MC, Botter SM, Sarker AH, Jaspers NG, van der Horst GT, Cooper PK, Hoeijmakers JH, van der Pluijm I (October 2014). "Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency". PLOS Genetics. 10 (10): e1004686. doi:10.1371/journal.pgen.1004686. PMC 4191938. PMID 25299392.
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برای مطالعهٔ بیشتر
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