Wyniki wyszukiwania

Wyszukiwano:
w słowach kluczowych: regulatory region

Sortuj według:

Ogranicz wyniki do:

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

100%

Kobielak K., Kobielak A., Limon J., Trzeciak W. H.

Acta Biochimica Polonica

1998

tom 45

nr 1

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.

Polymorphisms in coding and regulatory regions of the porcine MYF6 and MYOG genes and expression of the MYF6 gene in m. longissimus dorsi versus productive traits in pigs

58%

Wyszynska-Koko J., Pierzchala M., Flisikowski K., Kamyczek M., Rozycki M., Kuryl J.

Journal of Applied Genetics

2006

tom 47

nr 2

MYOG and MYF6 belong to the MyoD gene family. They code for the bHLH transcription factors playing a key role in later stages of myogenesis: differentiation and maturation of myotubes. Three SNPs in porcine MYF6 and two in porcine MYOG were analysed in order to establish associations with chosen carcass quality and growth rate traits in Polish Landrace, Polish Large White and line 990 sows. No statistically significant effect of SNP in the promoter region of the MYF6 gene on its expression measured on mRNA level was found. Associations between the genotype at the MYF6 locus and carcass quality traits appeared to be breed-dependent. The C allele in the case of SNP in the promoter region and GC haplotype in exon 1 were advantageous for right carcass side weight in Polish Landrace sows and disadvantageous for this trait in Polish Large White sows. These gene variants were also the most advantageous for loin and ham weight in sows of line 990. The mutation in exon 1 of the MYOG gene had no statistically significant association with carcass quality traits and the mutation in the 3’-flanking region had the breed-dependent effect as well. These results suggest that SNPs analysed in this study are not causative mutations, but can be considered as markers of some other, still unrevealed genetic polymorphism that influences the physiological processes and phenotypic traits considered in this study.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Journal of Applied Genetics

1 Flisikowski K.

1 Kamyczek M.

1 Kobielak A.

1 Kobielak K.

1 Kuryl J.

1 Limon J.

1 Pierzchala M.

1 Rozycki M.

1 Trzeciak W. H.

1 Wyszynska-Koko J.

1 2006

1 1998

Wyniki wyszukiwania

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

Polymorphisms in coding and regulatory regions of the porcine MYF6 and MYOG genes and expression of the MYF6 gene in m. longissimus dorsi versus productive traits in pigs