A5025550564- Connective tissue disorders research
- Chromosomal and Genetic Variations
- Hormonal and reproductive studies
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Neurobiology and Insect Physiology Research
- Genomics and Chromatin Dynamics
- Advanced Proteomics Techniques and Applications
- Genetic diversity and population structure
- Olfactory and Sensory Function Studies
- Salivary Gland Disorders and Functions
- CRISPR and Genetic Engineering
- Animal Behavior and Reproduction
- Genomics and Phylogenetic Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cell Adhesion Molecules Research
- Biotin and Related Studies
- Antimicrobial Peptides and Activities
- Cellular Mechanics and Interactions
- Thyroid Disorders and Treatments
- Sexual Differentiation and Disorders
- Neuroendocrine regulation and behavior
- Epigenetics and DNA Methylation
- Insect and Arachnid Ecology and Behavior
Carle Foundation Hospital
2023-2025
Illinois College
2021-2025
University of Illinois Urbana-Champaign
1998-2025
Clinical Research Institute
2025
Impact Assessment
2025
LAC+USC Medical Center
2023
University of California, San Diego
2023
University of Southern California
2023
University of California, Irvine
2023
Cedars-Sinai Medical Center
2023
To investigate the mechanisms by which adhesions form and disperse in migrating cells, we expressed α5 integrin, α-actinin, paxillin as green fluorescent protein (GFP) fusions. All localized with their endogenous counterparts did not perturb migration when at moderate levels. α5-GFP also rescued adhesive defects CHO B2 are integrin deficient. In ruffling α-actinin–GFP prominently leading edge membrane protrusions. Of three GFP fusion proteins that examined, was first component to appear...
Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children adults with lysosomal deficiency, underappreciated cause cirrhosis severe dyslipidemia.
Understanding the mechanisms driving lineage-specific evolution in both primates and rodents has been hindered by lack of sister clades with a similar phylogenetic structure having high-quality genome assemblies. Here, we have created chromosome-level assemblies Mus caroli pahari genomes. Together musculus Rattus norvegicus genomes, this set rodent genomes is divergence times to Hominidae (human-chimpanzee-gorilla-orangutan). By comparing evolutionary dynamics between Muridae Hominidae,...
Behavioural isolation may lead to complete speciation when partial postzygotic acts in the presence of divergent-specific mate-recognition systems. These conditions exist where Mus musculus and M. m. domesticus come into contact hybridize. We studied two signal systems, based on urinary salivary proteins, across a Central European portion mouse hybrid zone. Introgression genomic regions responsible for these signals: major proteins (MUPs) androgen binding (ABPs), respectively, was compared...
Chromatin-mediated silencing, including the formation of heterochromatin, silent chromosome territories, and repressed gene promoters, acts to stabilize patterns regulation physical structure genome. Reduction chromatin-mediated silencing can result in genome rearrangements, particularly at intrinsically unstable regions such as transposons, satellite repeats, repetitive clusters rRNA (
We wanted to determine whether the microevolution of mouse salivary androgen-binding protein (ABP) Alpha subunit gene (Abpa) could mediate sexual selection and thereby have a potential role in maintaining pool integrity where radiating subspecies make secondary contact. This hypothesis is based upon previous work this laboratory, which has shown that each apparently its own allele these alleles 25-fold excess nonsynonymous/synonymous base substitutions compared an average under purifying...
Allelic variation within the mouse androgen-binding protein (ABP) alpha subunit gene (Abpa) has been suggested to promote assortative mating and thus prezygotic isolation. This is consistent with elevated evolutionary rates observed for Abpa gene, Abpb Abpg genes whose products (ABPbeta ABPgamma) form heterodimers ABPalpha. We have investigated sequence that contains three Abpa/b/g genes, orthologous regions in rat, human, chimpanzee genomes. Our studies reveal extensive "remodeling" of this...
Only 5–10 % of breast cancer cases is linked to germline mutations in the BRCA-1 gene and occurs early life. Conversely, sporadic tumors, which represent 90-95 malignancies, have lower expression, but not mutated gene, tend occur later life combination with other genetic alterations and/or environmental exposures. The latter may include dietary factors that activate aromatic hydrocarbon receptor (AhR). Therefore, understanding if changes expression activation AhR are associated somatic...
Missense variants of the valosin-containing protein (VCP) gene cause a progressive, autosomal dominant disease termed VCP multisystem proteinopathy (MSP1). The is constellation clinical features including inclusion body myopathy (IBM), Paget bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), typically reported at frequency 90%, 42%, 30%, 9%, respectively. Hispanic population currently underrepresented in previous reports myopathy. We expand our...
We studied the effects of a single genetic change on complex mammalian behavior using animals congenic for two variants Abpa, gene alpha subunit mouse salivary androgen-binding protein (ABP), in two-way preference tests. Females exhibited investigating salivas males their own type ABP but not urines either male. This is consistent samples mice from geographically diverse populations Mus musculus domesticus and M. m. musculus. These findings provide an explanation observation that this...
Abstract Background The draft mouse ( Mus musculus ) genome sequence revealed an unexpected proliferation of gene duplicates encoding a family secretoglobin proteins including the androgen-binding protein (ABP) α, β and γ subunits. Further investigation 14 α-like Abpa 13 β- or γ-like Abpbg undisrupted sequences rich diversity developmental stage-, sex- tissue-specific expression. Despite these studies, our understanding evolution this remains incomplete. Questions arise from imperfections in...
People with hypermobile Ehlers-Danlos syndrome (hEDS) experience multisystemic dysfunction varying severity and unpredictability of flare occurrence. Cohort studies suggest that individuals hEDS have a higher risk for autonomic dysfunction. The gold standard assessing function, clinically, is the heart rate variability (HRV) assessment from 24-h Holter monitor electrocardiogram data, but this expensive can only be performed in short durations. Since their advent, biometric devices been...
Abstract Secretoglobins (SCGBs) are a superfamily of small, dimeric, cytokine-like proteins found originally in the reproductive tracts and airways mammals. Most SCGB research has focused on respiratory diseases humans laboratory animal models but knowledge their biological functions is sparse. We report here broad survey Scgbs, genes that encode SCGBs, genomes. tested view they uniquely mammalian origin distribution, hoping understanding distribution would shed light evolutionary history...
Abstract Background The reported penetrance of germline CDH 1 mutations is high in families with hereditary diffuse gastric cancer ( HDGC ). Men and women have a 70% 56%, respectively, cumulative risk developing by age 80. Women additionally 42% breast cancer. Due to the these mutations, prophylactic total gastrectomy currently recommended for mutation carriers. However, whether everyone gene at not clear. Methods Mutation identification was performed next‐generation sequencing. Mutations...
Retrotransposons comprise a large portion of mammalian genomes. They contribute to structural changes and more importantly gene regulation. The expansion diversification families have been implicated as sources evolutionary novelties. Given the roles retrotransposons play in genomes, their contribution evolution warrants further exploration. In this study, we found significant association between two major retrotransposon classes, LINEs LTRs, lineage-specific family expansions both human...
Three families of proteinaceous pheromones have been described in the house mouse: androgen-binding proteins (ABPs), exocrine gland-secreting peptides (ESPs), and major urinary (MUPs), each which is thought to communicate different information. All three are encoded by large gene clusters regions mouse genome, that expanded dramatically during evolutionary history. We report copy number variation among most recently duplicated Abp genes, suggests substantial volatility this region. It...
Abstract Background Retrotransposons have been suggested to provide a substrate for non-allelic homologous recombination (NAHR) and thereby promote gene family expansion. Their precise role, however, is controversial. Here we ask whether retrotransposons contributed the recent expansions of Androgen - binding protein ( Abp ) families that occurred independently in mouse rat genomes. Results Using dot plot analysis, found most duplication region genome flanked by L1Md _ T elements. Analysis...
Mouse salivary androgen-binding protein (ABP) is a member of the secretoglobin family produced in submaxillary glands house mice (Mus musculus). We report cDNA sequences and amino acid β γ subunits ABP from mouse library, identifying two by their pIs molecular weights. An anomalously high weight α subunit likely due to glycosylation at single site. A phylogenetic comparison three with chains other mammalian secretoglobins shows that most closely related lachrymal major cat allergen Fel dI....
The genes for salivary androgen-binding protein (ABP) subunits have been evolving rapidly in ancestors of the house mouse Mus musculus, as evidenced both by recent and extensive gene duplication high ratios nonsynonymous to synonymous nucleotide substitution rates. This makes ABP an appropriate model system with which investigate how adaptive evolution paralogous results functional innovation (neofunctionalization).It was our goal find evidence expression many Abp paralogues genome possible....
Assortative mating, a potentially efficient prezygotic reproductive barrier, may prevent loss of genetic potential by avoiding the production unfit hybrids (i.e., because hybrid infertility or breakdown) that occur at regions secondary contact between incipient species. In case mouse zone, where two subspecies Mus musculus (M. m. domesticus and M. musculus) meet exchange genes to limited extent, assortative mating requires means recognition. We based work reported here on hypothesis that, if...
The overall goal of our study was to compare the proteins found in saliva proteomes three mammals: human, mouse and rat. Our first objective two human with very different analysis depths. 89 shared this comparison apparently represent a core highly-expressed salivary proteins. Of unique each proteome, one-half 2/3 lack signal peptides probably are contaminants instead less highly-represented We recently published rodent salivas collected from genome (C57BL/6) rat (BN/SsNHsd/Mcwi). second...