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2014 | 32 | 1 |

Tytuł artykułu

Identification and characterization of SNP in 5’UTR of MLPH gene for goats with different coat colours

Autorzy

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
Melanophilin (MLPH) gene has been characterized as one of the candidate genes for coat colour dilution in human, mice and dog, but little is known about it in goat. Part of the 5’UTR (650bp,JQ743911) was sequenced leading to identify four polymorphic loci (g.G426A, g.A570G, g.G592T and g.612-614insCTC). The genetic diversity was analysed in 120 individuals of four breeds of goat. The possible transcription factors in the four loci were mined by online tools. The results show that the four loci were in Hardy-Weinberg equilibrium (P>0.05) and there was a significant difference in gene sequence between Jining Grey (JN) and Leizhou Black (LZ) breeds (P < 0.05). JN has the highest allele frequency of A, A, G and insertion CTC at the four loci; and LZ has the highest allele frequency of G, G, T and deletion CTC. JN has the lowest effective allele number and the lowest value of Shannon I at the four polymorphic loci. LZ has the highest effective allele number and the highest Shannon I at the four polymorphic loci. Moreover, JN has the highest Fst and Gst (0.08 and 0.12, respectively) and the lowest Nm (2.80) compared to LZ. In silico analysis showed that the possible transcription factors having a potential binding site in the sequence consisting of A, A and G and insertion CTC in the four polymorphic loci of 5’UTR of MLPH gene were BRN2, CCAT,P, STAT and USF. The sequence consisting of G, G, T and deletion CTC in the 5’UTR region of MLPH formed the possible binding sites of MyoD, c-Myb, v-Myb, AP-1, USF and NKX25. It could be concluded that JN has different gene sequence in the four mutation sites of 5’UTR of MLPH compared to LZ and the mutation caused the variation of possible transcription factors that may play a role in the MLPH gene expression regulation; so JN has dilute, ashen and grey coat colours and LZ is of solid black colour.

Słowa kluczowe

Wydawca

-

Rocznik

Tom

32

Numer

1

Opis fizyczny

p.33-40,fig.,ref.

Twórcy

autor
  • College of Animal Science and Technology, Agricultural University of Hebei, Baoding, 071000, China
autor
  • Hebei Normal University of Science and Technology, Oinhuangdao 066004, China
autor
  • Hebei Normal University of Science and Technology, Oinhuangdao 066004, China
  • Hebei Normal University of Science and Technology, Oinhuangdao 066004, China
autor
  • College of Animal Science and Technology, Agricultural University of Hebei, Baoding, 071000, China
autor
  • College of Animal Science and Technology, Agricultural University of Hebei, Baoding, 071000, China

Bibliografia

  • DRÖGEMÜLLER C., PHILIPP U., HAASE B., GÜNZEL-APEL A.R., LEEB T., 2007 − A Noncoding Melanophilin Gene (MLPH) SNP at the Splice Donor of Exon 1 Represents a Candidate Causal Mutation for Coat Colour Dilution in Dogs. Journal of Heredity 98, 468-473.
  • Feng F.J., Li X.L., Zhou R.Y., Zheng G.R., Li L.H., Li D.F., 2009 − Characterization and SNP identification of part of the goat melanophilin gene. Biochemical Genetics 47, 198-206.
  • FUKUDA M., KURODA T.S., 2004 − Missense mutations in the globular tail of myosin-Va in dilute mice partially impair binding of Slac2-a/melanophilin. Journal of Cell Science 117, 583-91.
  • FUKUDA M., KURODA T.S., MIKOSHIBA K., 2002 − Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport.Journal of Biological Chemistry 277, 12432-12436.
  • ISHIDA Y., DAVID V.A., EIZIRIK E., SCHÄFFER A.A., NEELAM B.A., ROELKE M.E., HANNAH S.S., O’BRIEN S.J., MENOTTI-RAYMOND M., 2006 − A homozygous single-base deletion in MLPH causes the dilute coat colour phenotype in the domestic cat. Genomics 88, 698-705.
  • KURODA T.S., ITOH T., FUKUDA M., 2005 − Functional analysis of slac2-a/melanophilin as a linker protein between Rab27A and myosin Va in melanosome transport. Methods in Enzymology 403, 419-431.
  • MATESIC L.E., YIP R., REUSS A.E., SWING D.A., O’SULLIVAN T.N., FLETCHER C.F.,COPELAND N.G., JENKINS N.A., 2001 − Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proceedings of the National Academy of Sciences of the USA 98, 10238-10243.
  • MÉNASCHÉ G., HO C.H., SANAL O., FELDMANN J., TEZCAN I., ERSOY F., HOUDUSSE A.,FISCHER A., de SAINT BASILE G., 2003 − Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). Journal of Clinical Investigation 112, 450-456.
  • PHILIPP U., HAMANN H., MECKLENBURG L., NISHINO S., MIGNOT E., GÜNZEL-APEL A.R., SCHMUTZ S.M., LEEB T., 2005A − Polymorphisms within the canine MLPH gene are associated with dilute coat colour in dogs. BMC Genetics 6, 34.
  • PHILIPP U., QUIGNON P., SCOTT A., ANDRÉ C., BREEN M., LEEB T., 2005B − Chromosomal assignment of the canine melanophilin gene (MLPH): a candidate gene for coat colour dilution in Pinschers. Journal of Heredity 96, 774-776.
  • PROVANCE D.W., JAMES T.L., MERCER J.A., 2002 − Melanophilin, the product of the leaden locus, is required for targeting of myosin-Va to melanosomes. Traffic 3, 124-132.
  • VAQUERIZAS J.M., KUMMERFELD S.K., TEICHMANN S.A., LUSCOMBE N.M., 2009 − A census of human transcription factors, function, expression and evolution. Nature Reviews Genetics 10,252-263
  • ZHOU, R.Y., FENG, F.J., LI, X.L., LI, L.H, TANG, C.J., WANG, J.T., ZHENG, H.Q., 2010 − Study on transition of g.11584A>G of goat melanophilin gene in different populations. African Journal of Biotechnology 16, 2328-2332.

Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

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