Sự ra đời, mở rộng và cái chết của các palindrome chứa VCY trên nhiễm sắc thể Y của người

Wentao Shi1, Andrea Massaia1, Sandra Louzada1, Juliet Handsaker1, William Chow1, Shane McCarthy1, Joanna Collins1, Pille Hallast1, Kerstin Howe1, Deanna M. Church2, Fengtang Yang1, Yali Xue1, Chris Tyler‐Smith1
1The Wellcome Sanger Institute, Hinxton, Cambridgeshire, CB10 1SA, UK
210X Genomics, 7068 Koll Center Parkway, Suite 401, Pleasanton, CA 94566, USA

Tóm tắt

Tóm tắt Nền tảng Các palindrome lớn (các đoạn lặp đảo) chiếm tỷ lệ đáng kể trên các nhiễm sắc thể giới tính của động vật có vú, thường chứa các gen và có tỉ lệ biến thể cấu trúc cao do tái tổ hợp ngoại tâm. Kết quả là, chúng là nguyên nhân gây ra nhiều rối loạn di truyền. Sự duy trì cấu trúc palindrome bằng cách chuyển gen giữa các cánh đã được ghi nhận, nhưng trong thời gian dài hơn, các palindrome rất dễ thay đổi. Tuy nhiên, các cơ chế hình thành và mất đi của các palindrome vẫn chưa được chú ý nhiều.

Từ khóa

#palindrome #nhiễm sắc thể Y #VCY #biến thể cấu trúc #động vật có vú

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