Simultaneous Presence of G1 and G4 Mutations in Growth Differentiation Factor 9 Gene of Iranian Sheep

محورهای موضوعی : Camel

S. Eghbalsaied ¹ (Young Researchers and Elite Club, Isfahan (Khorasgan) branch, Islamic Azad University, Isfahan, Iran)
H. Amini ² (Young Researchers and Elite Club, Isfahan (Khorasgan) branch, Islamic Azad University, Isfahan, Iran)
S. Shahmoradi ³ (Young Researchers and Elite Club, Isfahan (Khorasgan) branch, Islamic Azad University, Isfahan, Iran)
M. M. Farahi ⁴ (Young Researchers and Elite Club, Isfahan (Khorasgan) branch, Islamic Azad University, Isfahan, Iran)

تاریخ دریافت : 1392/10/06 تاریخ پذیرش : 1392/12/24 تاریخ انتشار : 1393/09/10

کلید واژه: Iran, Afshari, GDF9, G1, G4, Shal, twin birth,

چکیده مقاله :

The fecundity in sheep has been much interested for producers due to its economical importance. Growth differentiation factor 9 (GDF9) is an autosomal gene with over dominance effect for twosingle nucleotide polymorphisms(SNPs), which resulted in sterility in homozygote mutant ewes and additive effect for three SNPs, without showing sterility event. In the present study, DNA was extracted from whole blood of 19 Iranian Afshari and 8 Shal sheep breeds. The extracted DNA was multiplied several folds for G1, G4 and G8 sites in GDF9 gene through polymerase chain reaction(PCR) technique and was sent for sequencing. Results showed that G1-GDF9 mutation (arginine to histidine shift) was detected in Afshari breed, while G4-GDF9 mutation (glutamic acid to lysine shift) was detected in both Afshari and Shal breeds. The observed SNPs were recorded with very low frequency (<8%) in fertile ewes with twining birth, while infertile ewe did not carry the mutant allele. This might indicate an association between these mutations and twin-births in Iranian breeds. Furthermore, these mutations could not be the reason for ewe infertility. In consistent with the rare frequency of infertility in Iranian sheep, the investigated population lacked the G8 or Thoka mutations, which are the most effective mutations in GDF9 gene.This may be due to lack or rare frequency of this SNP in Iranian sheep flocks. In conclusion, G1- and G4-GDF9 SNPs are segregating with very low frequency in Iranian sheep flocks, so that no homozygous ewe for these SNPs was detected in the current study. The same phenomenon could be the case for other important mutations and the sample size should be very large to rule out presence of such mutations in Iranian sheep breeds.

چکیده انگلیسی:

به دلیل اهمیت زیاد اقتصادی صفت باروری گوسفندان، این صفت بسیار مورد توجه گوسفندداران واقع است. فاکتور تمایز رشد 9 (GDF9) یک ژن اتوزومی بوده که در دو حالت جهش تک نوکلئوتیدی، فوق غالب بوده و منجر به عقیمی می‌شود و در سه حالت جهش تک نوکلئوتیدی، اثر افزایشی داشته و عقیمی را ایجاد نمی‌کند. در این مطالعه، DNA از نمونه خون 19 گوسفند نژاد افشاری و 8 گوسفند نژاد شال استخراج شد. قطعات مختلف DNA استخراج شده با استفاده از پرایمرهای اختصاصی برای جهش های G1، G4 و G8 و نیزدستگاه PCR تکثیر و برای توالی ‌یابی ارسال شد. نتایج این تحقیق نشان داد که جهش G1 (تبدیل آرژینین به هیستیدین) در گوسفندان نژاد افشاری و جهش G4 (تبدیل اسید گلوتامیک به لیزین) در هر دو نژاد شال و افشاری مشاهده شد. فراوانی جهش‌های مشاهده شده در گوسفندان دوقلوزا بسیار کم بود (> 8 درصد) و این جهش‌ها در تنها گوسفند عقیم مورد مطالعه مشاهده نشدند. این حالت ممکن است دلالت بر ارتباط بین این جهش‌ها و صفت دوقلوزایی گوسفندان ایرانی باشد. علاوه براین، این جهش‌ها عامل ایجاد عقیمی نبودند. در جمعیت گوسفندان مورد مطالعه، هیچکدام از جهش های G8 و یا توکا که مؤثرترین جهش در GDF9 می‌باشند، مشاهده نشدند که این یافته منطبق بر رخداد بسیار نادر عقیمی در گوسفندان ایرانی است. عدم مشاهده این جهش‌ها ممکن است نشان دهنده عدم وجود و یا وجود نادر این جهش‌ها در گله گوسفندان ایرانی باشد. در مجموع، جهش‌های G1 و G4 درحال تفرق در گله گوسفندان ایرانی هستند، هر چند که فراوانی آنها به قدری کم است که در این مطالعه گوسفند هوموزیگوت برای این جهش‌ها مشاهده نشد. سایر جهش‌های مهم در ژن GDF9 گوسفندان ایرانی نیز ممکن است دارای فراوانی نادر بوده و برای رد وجود آنها در گله‌های گوسفندان ایرانی نیاز به اندازه نمونه بسیار بزرگ ضروری می‌باشد.

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