A5103055421- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Growth Hormone and Insulin-like Growth Factors
- Zebrafish Biomedical Research Applications
- Glycosylation and Glycoproteins Research
- Cellular transport and secretion
- Child and Adolescent Health
- Muscle Physiology and Disorders
- Sperm and Testicular Function
- Herpesvirus Infections and Treatments
- Hormonal and reproductive studies
- Metabolism, Diabetes, and Cancer
- Congenital heart defects research
- Bacterial Infections and Vaccines
- Blood groups and transfusion
- Pancreatic function and diabetes
- RNA modifications and cancer
- Cardiac Arrest and Resuscitation
- RNA Interference and Gene Delivery
- Animal Genetics and Reproduction
- Cancer-related molecular mechanisms research
- Cancer-related gene regulation
- Nursing Roles and Practices
- Rabies epidemiology and control
Deakin University
2024
Government of Victoria
2024
University College Dublin
2006-2021
St George's Hospital
2020
University of Plymouth
2020
Singapore General Hospital
2015
Duke Medical Center
2001-2003
Saint Louis University
1987-1990
University of Texas Health Science Center at Dallas
1984-1987
The University of Texas Health Science Center at Houston
1984
We have cloned and sequenced the full-length cDNA for human cation-independent mannose 6-phosphate receptor from four overlapping clones. The 9104-nucleotide sequence contains 7473 nucleotides which encode a protein of 2491 amino acids. acid includes putative signal 40 acids, an extracytoplasmic domain consisting 15 homologous repeat sequences 134-167 transmembrane region 23 cytoplasmic 164 predicted molecular size is greater than 270 kDa. Repeats 7-15 are highly with recently reported...
M6P/IGF2R imprinting first appeared approximately 150 million years ago following the divergence of prototherian from therian mammals. Although is clearly imprinted in opossums and rodents, its imprint status humans remains ambiguous. It also still unknown if was an ancestral mammalian epigenotype or it evolved convergently. We report herein that Artiodactyla, as Rodentia Marsupialia, but not Scandentia, Dermoptera Primates, including ringtail lemurs humans. These results are most...
IGF2 (insulin-like growth factor 2) and M6P/IGF2R (mannose 6-phosphate/insulin-like 2 receptor) are imprinted in marsupials eutherians but not birds. These results along with the absence of imprinting egg-laying monotremes indicate that parental fetal growth-regulatory genes may be unique to viviparous mammals. In this investigation, we have cloned from two monotreme mammals, platypus echidna, further investigate origin imprinting. We report herein like M6P/IGF2R, is monotremes. Thus,...
The insulin-like growth factor (IGF) signalling pathway has been highly conserved in animal evolution and, mammals and <i>Xenopus</i>, plays a key role embryonic development, with the IGF-1 receptor (IGF-1R) being crucial regulator of cascade. Here we report first functional for IGF zebrafish. Expression mRNA coding dominant negative IGF-1R resulted embryos that were small size compared to controls had disrupted head CNS development. At its most extreme, this phenotype was characterized by...
Mouse L cells deficient in expression of the murine cation-independent mannose 6-phosphate receptor/insulin-like growth factor II receptor (CI-MPR/IGF-IIR) were stably transfected with a plasmid containing cDNA for human receptor. Transfected expressed high levels which functioned transport lysosomal enzymes and was capable binding 125I-IGF-II, both at cell surface intracellularly. Cell 125I-IGF-II by could be inhibited pretreatment antibodies to or coincubation enzyme, beta-glucuronidase....
Placental development and genomic imprinting coevolved with parental conflict over resource distribution to mammalian offspring. The imprinted genes IGF2 IGF2R code for the growth promoter insulin-like factor 2 (IGF2) its inhibitor, mannose 6-phosphate (M6P)/IGF2 receptor (IGF2R), respectively. M6P/IGF2R of birds fish do not recognize IGF2. In monotremes, which lack imprinting, specifically bound via a hydrophobic CD loop. We show that DNA coding loop in monotremes functions as an exon...
Mannose 6-phosphate/insulin-like growth factor II receptor (M6P/IGF2R) tumor suppressor– gene mutation is an early event in human hepatocellular carcinoma (HCC) formation the United States, but its role hepatocarcinogenesis Japan unclear. We therefore determined M6P/IGF2R frequency HCCs from patients who resided southern, central, and northern regions of Japan. Ten single nucleotide polymorphisms were used to identify dysplastic liver nodules with loss heterozygosity. The retained allele...
To test the role of putative bifunctional receptor in intracellular sorting acid hydrolases, we studied its effect on lysosomal enzyme transport following gene transfer to receptornegative cells.Receptor-negative mouse P388D1 cells were transfected with a cDNA construct containing entire coding sequence hCI-MPR under control metallothionine I promoter.Stable transformants isolated and characterized.The expressed was localized membranes including plasma membrane, bound mannose 6-phosphate...
The insulin-like growth factor (IGF) family is essential for normal embryonic and development it highly conserved through vertebrate evolution. However, the roles that individual members of IGF play in have not been fully elucidated. This study focuses on role IGF-2 zebrafish development. Two igf-2 genes, igf-2a igf-2b, are present genome. Antisense morpholinos were designed to knock down both genes. neural cardiovascular defects morphant embryos then examined further using wholemount situ...
The global impact of substance use, including cannabis, amphetamine, cocaine, ecstasy, hallucinogens, and opioids, is increasing, although the overall prevalence low. Australia New Zealand are among few regions world in which use (typically illicit) these classes substances remains within top 10 causes disease burden. period adolescence young adulthood, during behaviors accelerate prevalence, associated with a particular risk for harm. However, ability to study each class has been limited by...
Genomic imprinting results in monoallelic gene transcription that is directed by cis -acting regulatory elements epigenetically marked a parent-of-origin-dependent manner. We performed phylogenetic sequence and epigenetic comparisons of IGF2 between the nonimprinted platypus ( Ornithorhynchus anatinus ) imprinted opossum Didelphis virginiana ), mouse Mus musculus human Homo sapiens to determine if their divergent imprint status would reflect differences conservation genomic important...
Genetically defined mouse models of male infertility are described in the present report. The mice were rendered infertile by one following gene mutations: Ames dwarf, flipper-arm, hightail, hypothyroid, little, pygmy, stubby. effects each mutation on testicular steroidogenesis and spermatogenesis elucidated a comparison mutant to their normal siblings. Testicular was assessed directly determining steroid secretion testes perfused vitro. study provides first comprehensive assessment function...
The 215-kd phosphomannosyl receptor is involved in the transport of newly synthesized acid hydrolases to lysosomes and also mediates pinocytosis lysosomal enzymes by fibroblasts culture. Recycling receptors sorting sites an integral part both these processes. In this report, we describe inhibition human functions a rabbit antiserum bovine liver receptor. This cannot be completely accounted for ligand-receptor interaction. Rather antibody appears cross-link cause removal from (plasma membrane...
An X-linked muscular dystrophy, with deficiency of full-length dystrophin and expression a low molecular weight dystrophin-related protein, has been described in Japanese Spitz dogs. The aim this study was to identify the causative mutation develop specific test affected cases carrier animals. Gene studies skeletal muscle an animal indicated aberrant Duchenne dystrophy (dystrophin) gene anomaly intron 19 gene. Genome-walking experiments revealed inversion that interrupts two genes on X...
Muscular hypertrophy in callipyge sheep results from a single nucleotide substitution located the genomic interval between imprinted Delta, Drosophila, Homolog-like 1 ( DLK1 ) and Maternally Expressed Gene 3 MEG3 ). The mechanism linking mutation to muscle is unclear but involves overexpression. contained within CLPG1 transcripts produced this region. Herein we show that expressed prenatally hypertrophy-responsive longissimus dorsi by all four possible genotypes, postnatal expression...
SUMMARY Imprinted genes are epigenetically modified in a parent of origin‐dependent manner, and as consequence, differentially expressed. Although the evolution genomic imprinting is subject intense debate, imprinted have been studied primarily mice humans small number marsupial mammals. Comparative studies involving rodents primates limited value, they belong to same superordinal group eutherian mammals (Euarchontoglires). On other hand, comparisons marsupials may not be informative, due...