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標題: 酪胺酸酶基因變異與情侶鸚鵡隱性白羽之關係
Mutations on the tyrosinase gene are associated with recessive white in lovebirds
作者: 葉筱榆
Hsiao-Yu Yeh
關鍵字: 酪胺酸酶
Recessive white
Molecular marker
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摘要: 摘要 大多數生物的顏色表型是由真黑色素(eumelanin)及褐黑色素(phaeomelanin)所形成,對寵物飼養或育種者而言,藉由分子遺傳學了解色素形成機制,可有效地辨別個體顏色多樣性中的基因型態。情侶鸚鵡(lovebird)中,有兩種經由隱性遺傳所呈現的白色羽毛表型,分別為紅眼黃/白化(lutino/albino; ino)及黑眼黃/白化(dark eyed clear; DEC),在兩種變異個體中,真黑色素的產生幾乎被完全阻斷,稱為酪胺酸酶陰性白化症(tyrosinase negative albinism)。而動物中發現,酪胺酸酶基因突變具有獨立演化性,其中,在許多馴養的雞種更發現相似的隱性白表型存在,這意味著酪胺酸酶基因可作為探究鸚鵡羽毛顏色減退變異的候選基因(candidate gene),我們的試驗將探討酪胺酸酶基因在愛情鳥白色羽毛表型中所引導的機制變化。使用脊椎動物的同源基因預測酪胺酸酶蛋白編碼區序列,用以設計愛情鳥基因組DNA之引子。分析紅眼黃/白化、黑眼黃/白化及具色素沉著表型經增殖後的序列,在序列中,我們發現了六個單核苷酸多態性(single nucleotide polymorphism, SNP):3個同義替換(synonymous)及3個非同義取代(non-synonymous)。其中,與紅眼黃/白化表型相關的胺基酸置換,發生在酪胺酸酶基因的外顯子1且為第238個密碼子,該變異位點之色胺酸(Tryptophan)是酪胺酸酶結構在功能性演化下所存在的一個高度保留以及對突變敏感的胺基酸。另一變異則是在黑眼黃/白化羽色表型之酪胺酸酶外顯子4序列中發現1344-1349核苷酸位點的6 bp (5'-CTATGA-3')序列缺失,在序列經推導(deduced)後,減少的兩個胺基酸,分別是天門冬胺酸(aspartic acid)及酪胺酸(tyrosine),此缺失發生在酪胺酸酶的第448及449兩個密碼子,將導致不完整的蛋白序列,又稱為截斷蛋白(truncated protein)。此外,我們使用試驗中表型間所發現的序列差異與單核苷酸多態性設計等位基因特異性(allele-specific)引子,並以聚合酶連鎖反應(Polymerase chain reaction; PCR)作快速檢測,分辨個體是否帶有白化因子。因酪胺酸酶基因的機能性演化,也可能存在同樣會導致紅眼黃/白化及黑眼黃/白化羽色表型的其他基因型變異,而這兩個色素沉著不足的突變位點仍可作為育種選拔的分子標記選擇之一。
Abstract The color phenotype caused by both eumelanin and phaeomelanin pigments in most of organisms. For pet owners or breeders, unraveling the mechanisms underlying the pigmentation morphs from molecular genetics can be used efficiently for animal genotyping. There are two different forms of recessive white lovebird; ino and dark eyed clear (DEC), respectively. In the case of these variants, the production of eumelanin is almost completely blocked, dealing with what called tyrosinase negative albinism. Mutations within tyrosinase gene have occurred independently in the evolution of several animal species. A number of domesticated chicken species also display a similar recessive white phenotype, suggesting that TYR could be a candidate gene for parrots' hypopigmentation. In our experiment will investigate the role of tyrosinase gene associated with white plumage color variation in the lovebird. Using the homologous genes of vertebrate to predicted TYR protein coding region sequence, and then designed primers for lovebird genomic DNA. Amplified sequences are analyzed among ino, DEC and colored phenotypes. We found 6 SNPs (single nucleotide polymorphism): 3 synonymous and 3 non-synonymous variants. A non-synonymous mutation had found in tyrosinase exon 1, 238th amino acid from the start codon, and it is related to ino phenotype. Tryptophan of the mutant site is a highly conserved and mutation sensitive amino acid as a result of the functional evolution of tyrosinase structure. Another mutation is a six-nucleotide deletion of tyrosinase exon 4. The deduced DEC phenotype tyrosinase lacks two amino acids, aspartic acid and tyrosine. The defect at the 448 and 449 codon of tyrosinase can lead to a truncated protein. Therefore, we use the sequence differences and SNPs to design allele-specific primers for PCR diagnostic tests, and rapidly detect the carrier from colored individual. There may have other mutations exist resulting in the same phenotype of ino or DEC in the lovebird due to the tyrosinase gene functional evolution. The two mutant sites of hypopigmentation can still be used as one of the options in molecular markers for breeding selection.
文章公開時間: 10000-01-01
Appears in Collections:動物科學系



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