Gen Col2a-1 ở chuột được bảo tồn cao và liên kết với Int-1 trên nhiễm sắc thể 15

Springer Science and Business Media LLC - Tập 1 - Trang 171-183 - 1991
Kathryn S. E. Cheah1, Patrick K. C. Au1, Elizabeth T. Lau1, Peter F. R. Little2, Lisa Stubbs3
1Department of Biochemistry, Hong Kong University, Hong Kong
2Department of Biochemistry, Imperial College of Science, Technology and Medicine, London, UK
3Lincoln's Inn Fields, Imperial Cancer Research Fund, London, UK

Tóm tắt

Collagen loại II là thành phần chính của ma trận ngoại bào trong sụn, và sự biểu hiện chính xác của gen collagen α1(II) rất quan trọng cho sự phát triển của hệ xương ở động vật có xương sống. Để cung cấp cơ sở cho việc nghiên cứu kiểm soát biểu hiện gen collagen loại II trong quá trình phát triển phôi và trong các mô hình chuột của bệnh lý mô liên kết ở người, gen Col2-a1 của chuột đã được phân lập hoàn toàn trong một clam cosmid duy nhất, cosMcol.2, và được đặc trưng một phần. Gen này có kích thước khoảng 30 kb và được bảo tồn cao về cấu trúc exon/intron cũng như trình tự nucleotide và amino acid (>80% đồng nhất) khi so sánh với các tương đương ở người, chuột, bò và gà. Mức độ bảo tồn cao cũng được tìm thấy trong vùng lân cận 5′ của gen collagen α1(II) ở chuột, người và chuột cống, bao gồm sự hiện diện của một số động thái lặp lại trực tiếp giàu G+C và C+T. Các vị trí bắt đầu phiên mã, codon kết thúc và polyadenyl hóa cũng đã được xác định. Không giống như gà, bò và người, nơi mà gắn polyA xảy ra tại một vị trí duy nhất, đối với gen Col2a-1 ở chuột, có hai vị trí polyadenyl hóa được sử dụng. Col2a-1 cũng đã được định vị thông qua phân tích hồi quy giữa các loài tại phần giữa của nhiễm sắc thể 15 của chuột, cách Int-1 khoảng 8 centiMorgan (cM) về phía gần và 18 cM về phía xa Myc. Do đó, Col2a-1 được bao gồm trong một nhóm liên kết được bảo tồn trên nhiễm sắc thể 12q của người.

Từ khóa

#collagen loại II #gen Col2-a1 #phát triển xương #ma trận ngoại bào #chuột #bệnh lý mô liên kết

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