ABSTRACT
1. Paired box (Pax7) gene is a member of the paired box family and plays a critical role in animal growth and muscle development. However, the molecular characterisation of the goose Pax7 gene is unknown. 2. The open-reading frame of goose Pax7 is composed of 1509 bp, which encodes a protein of 503 amino acids and shares high homology with Pax7 of other birds. 3. Ten single-nucleotide polymorphisms were identified in the genomic DNA sequence, 8 located in the intron region and two located in the exon region. 4. Association analysis showed the C122T locus was significantly associated with the body weight of Zhedong-White geese in week 4, 6, 8, 10 and 12. 5. It was concluded that the goose Pax7 gene may be an important candidate gene for goose growth traits and marker-assisted selection.
Subject(s)
Avian Proteins/genetics , Geese/genetics , PAX7 Transcription Factor/genetics , Amino Acid Sequence , Animals , Avian Proteins/chemistry , Avian Proteins/metabolism , Base Sequence , Geese/growth & development , PAX7 Transcription Factor/metabolism , Phylogeny , Polymorphism, Single Nucleotide , Sequence Alignment/veterinaryABSTRACT
OBJECTIVE: To conduct analysis and prenatal diagnosis on 11 couples carrying Thailand deletion (--(THΑI)) α-thalassemia 1, so as to provide information for clinical genetic counseling on α-thalassemia 1. METHODS: Altogether 11 Thailand deletion (--(THΑI)) α-thalassemia 1 families were collected from Fujian Maternal and Children Health Hospital from May 2009 to September 2015. Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) technology were used to detect the thalassemia mutations in the couples and fetuses. RESULTS: In one family, Thailand deletion α-thalassemia 1 was detected in both the pregnant woman and her husband. In 10 families, Thailand deletion α-thalassemia 1 was detected in either the pregnant women or the husband, while the spouses had α-thalassemia heterozygote (1 combined with ß thalassemia heterozygote). Thailand deletion α-thalassemia 1 family members all had lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). In prenatal diagnosis of the 12 fetuses, 4 fetuses were found with hemoglobin(Hb) Bart's hydrops fetalis syndrome, 5 were with α-thalassemia heterozygote, and 3 were normal. CONCLUSIONS: For couples with positive hematological phenotype but normal results in routine genetic examination of α-thalassemia, attention should be paid especially for with a history of having babies of hydrops fetalis syndrome or hemoglobin H disease. It is necessary to consider the possibility of the rare Thailand deletion (--(THΑI)) α-thalassemia 1. Prenatal diagnosis for high-risk families plays an important role.
Subject(s)
Hemoglobins, Abnormal/genetics , Hydrops Fetalis/diagnosis , Mutation , Polymerase Chain Reaction/methods , Prenatal Diagnosis/methods , alpha-Thalassemia/genetics , Erythrocyte Indices , Female , Gene Deletion , Genetic Counseling , Genetic Testing , Heterozygote , Humans , Hydrops Fetalis/genetics , Infant , Pregnancy , Sequence Deletion , Thailand , alpha-Thalassemia/bloodABSTRACT
Agouti signalling protein (ASIP) is an endogenous antagonist of melanocortin-1 receptor (MC1R) and is involved in the regulation of pigmentation in mammals. The objective of this study was to identify and characterise the ASIP gene in domestic goose. The goose ASIP cDNA consisted of a 44-nucleotide 5'-terminal untranslated region (UTR), a 390-nucleotide open-reading frame (ORF) and a 45-nucleotide 3'-UTR. The length of goose ASIP genomic DNA was 6176 bp, including three coding exons and two introns. Bioinformatic analysis indicated that the ORF encodes a protein of 130 amino-acid residues with a molecular weight of 14.88 kDa and an isoelectric point of 9.73. Multiple sequence alignments and phylogenetic analysis showed that the amino-acid sequence of ASIP was conserved in vertebrates, especially in the avian species. RT-qPCR showed that the goose ASIP mRNA was differentially expressed in the pigment deposition tissues, including eye, foot, feather follicle, skin of the back, as well as in skin of the abdomen. The expression level of the ASIP gene in skin of the abdomen was higher than that in skin of the back. Those findings will contribute to further understanding the functions of the ASIP gene in geese plumage colouring.
Subject(s)
Agouti Signaling Protein/genetics , Avian Proteins/genetics , Geese/genetics , Agouti Signaling Protein/metabolism , Amino Acid Sequence , Animals , Avian Proteins/metabolism , Base Sequence , Cloning, Molecular , Computational Biology , DNA, Complementary/genetics , DNA, Complementary/metabolism , Geese/metabolism , Organ Specificity , Phylogeny , Pigmentation/genetics , RNA, Messenger/genetics , RNA, Messenger/metabolism , Sequence Alignment/veterinaryABSTRACT
1. Vasoactive intestinal peptide (VIP) is involved in the control of prolactin (PRL) release and plays a pivotal role as a regulator of reproductive behaviour and neuroendocrine secretion in birds. 2. In this study, a 941-bp cDNA fragment covering the complete coding region (CDS) of goose VIP gene was identified. The cDNA contains a 32-bp 5'-untranslated region (UTR), a 603-bp CDS and a 306-bp 3'-UTR containing two ATTTA sequence elements, two polyadenylation signals (AATAAA) and a 25-bp poly (A) tail. 3. Seven exons and 6 introns were identified, and both the cDNA and genomic DNA sequences showed high identity with those of other species. 4. The sequence analysis indicated that there were two alternatively spliced transcripts the long transcript (VIP-1) encoded both VIP and peptide histidine isoleucine exons and the short one (VIP-2) only encoded VIP. 5. RT-PCR analysis indicates that the expression level of the VIP-1 is much lower than that of VIP-2, and that VIP-1 is negligible or absent in muscle, abdominal fat, ovary and spleen, whereas VIP-2 is widely distributed in all the examined tissues. 6. A total of 12 single nucleotide polymorphisms (SNPs), including 2 SNPs located in the coding region and 10 variations in intron regions, were identified in goose VIP gene.
Subject(s)
Geese/genetics , Vasoactive Intestinal Peptide/genetics , Amino Acid Sequence , Animals , Base Sequence , Cloning, Molecular , Female , Molecular Sequence Data , Phylogeny , Polymorphism, Single Nucleotide/genetics , Tissue Distribution , Vasoactive Intestinal Peptide/analysisABSTRACT
1. The low-density lipoprotein receptor-related protein 8 (LRP8), a member of the low-density lipoprotein receptor (LDLR) gene family, participates in the supplying of lipid during follicular development. The objective of the study was to identify and characterise the LRP8 gene in goose. 2. A 2867 bp fragment that covered the complete coding region (CDS) of goose (Anser cygnoides) LRP8 gene was cloned. It encoded a protein of 917 amino acid residues containing a 24-amino acid signal peptide and 5 functional domains. The goose LRP8 showed high nucleic acid and amino acid identities with those in other species. 3. Similarly to duck LRP8 gene, two splice variants of LRP8, LRP8-1 (containing 8 ligand-binding repeats) and LRP8-2 (containing 7 ligand-binding repeats), were identified in goose. 4. Semi-quantitative RT-PCR analysis indicates that the LRP8-1 transcript is expressed in heart, liver, spleen, lung, kidney, breast muscle, duodenum, hypothalamus, pituitary and ovary, negligible or absent in sebum and oviduct, and the LRP8-2 transcript is widely expressed in all examined tissues. 5. A total of 7 SNPs were identified in the coding region of the goose LRP8 gene.
