Isolated Growth Hormone Deficiency (IGHD) due to GH1 gene defects has a variable inheritance pattern: autosomal recessive, autosomal dominant, and X-linked. the autosomal dominantly inherited form, IGHD II, is mainly caused by heterozygous mutations of splicing around the exon 3/IVs3 boundary region of the GH1 gene resulting in exon 3 skipping of transcripts. We have previously reported finding...

We sequenced all nine exons, exon-intron junctions including a part of introns, 5'-flanking and 3'-untranslated regions of the cytochrome P450 (CYP) 2A13 gene from 192 Japanese individuals. We found eighteen novel genetic polymorphisms including five single nucleotide polymorphisms (SNP) and one three base pair insertion causing amino acid substitution and one amino acid insertion, respectively...

Gene duplication and alternative splicing are important sources of proteomic diversity. Despite research indicating that gene duplication and alternative splicing are negatively correlated, the evolutionary relationship between the two remains unclear. One manner in which alternative splicing and gene duplication may be related is through the process of subfunctionalization, in which an alterna...

Quantitative traits locus for milk production traits has been described on centromeric end of bovine chromosome 14. Reports name the acyl coA: diacylglycerol acyltransferase (DGAT1) gene as a potential candidate gene with dinucleotide substitution (AA to GC) in exon VIII which causes the change of lysine to alanine in amino acid (K232A).The aim of the present study was to estimate the frequency...

Growth hormone (GH) is the most important hormone that controls somatic cell growth and the syntheses of protein, fat, and carbohydrates. This study was to identify gene polymorphism of GH-1 using PCR- single strand conformation polymorphism (SSCP) technique and its association with growth traits including condition factor (CF), body weight (BW) and total length (TL) in common carp (Cyprinus ca...

Reduced sperm quantity and motility are primary causes of infertility in men. Before researchers showed that, Nsun7 gene has roles in sperm motility of mouse, that creation defect in this gene is cause infertility. This gene in human located in chromosome 4, with 12 exons and a hot spot exon (exon7). Our aim is study of the mutations of the exon7 in the normospermic and asthenoteratospermic men...

Note: 6 exons, spread out over approximately 2.4 kb Description The Rac3 gene encompasses 6 exons on chromosome 17. Exon 1 encodes residues 1-12, exon 2 residues 1336, exon 3 residues 37-75, exon 4 residues 76-96, exon 5 residues 97-149 and exon 6 residues 150-192. Transcription Human Rac3 mRNA is a single species of around 1 kb. No splice variants have been reported. Factors that would regulat...

abcg2 (atp binding cassette subfamily g member 2) gene, located on chromosome 6 encodes the abcg2 protein that transports various xenobiotics, cytostatic drugs across the plasma membrane as well as cholesterol into milk. a single nucleotide change (a/c) in base 86 of exon 14 is capable of encoding a substitution of tyrosine with serine in the abcg2 gene and increase milk yield while decreasing ...

The ovine melatonin receptor 1A (MTNR1A) and aromatase (CYP19) genes were structurally characterized and the association between their variants and reproductive and growth traits was studied in Kurdi sheep at Kurdi sheep breeding station located in Shirvan, Iran. The genomic DNA was extracted by guanidine thiocyanate-silica gel method. Polymerase chain reaction was carried out to amplify 824 bp...