Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and function as structural and regulatory molecules. PGs are composed of core proteins and glycosaminoglycan (GAG) side chains. The biosynthesis of GAGs starts with the linker region that consists of four sugar residues and is followed by repeating disaccharide units. By exome sequencing, we found that B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1). B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from seven families. In a subsequent candidate gene study based on the phenotypic similarity, we found that B3GALT6 is also responsible for a connective tissue disease, Ehlers-Danlos syndrome (progeroid form). Recessive loss-of-function mutations in B3GALT6 result in a spectrum of disorders affecting a broad range of skeletal and connective tissues characterized by lax skin, muscle hypotonia, joint dislocation, and spinal deformity. The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament.

Developmental changes in the heavy subunit of neurofilaments in the corpus callosum of the cat.

In the corpus callosum of the cat, the heavy subunit of neurofilaments (NFH) can be demonstrated with the monoclonal antibody NE14, as early as P11, not at P3, and only in a few axons. At P18-19 and more markedly at P29, many more callosal axons have become positive to NE14 and this is similar to what is found in the adult. In contrast, callosal axons become positive to the neurofilament antibody SMI-32 only between P29 and P39 and remain positive in the adult. Treatment with alkaline phosphatase prevents axonal staining with NE14, but results in SMI-32 staining of a few callosal axons as early as P11, but not at P3. Between P11 and P19 the number of axons stained with SMI-32 after alkaline phosphatase treatment increases, in parallel with that of axons stained with NE14. Thus NE14 appears to recognize a phosphorylated form of NFH, while SMI-32 appears to recognize an epitope of NFH which is either masked by phosphate or inaccessible until between P29 and P39, unless the tissue is treated with alkaline phosphatase. These two forms of NFH appear towards the end of the period of massive developmental elimination of callosal axons. They are also synchronous with changes in the spacing of neurofilaments quantified in a separate ultrastructural study. These cytoskeletal changes may terminate the juvenile-labile state of callosal axons and allow further axial growth of the axon.

Ectopic lymphoid-organ development occurs through interleukin 7-mediated enhanced survival of lymphoid-tissue-inducer cells.

Development of Peyer's patches and lymph nodes requires the interaction between CD4+ CD3- IL-7Ralpha+ lymphoid-tissue inducer (LTi) and VCAM-1+ organizer cells. Here we showed that by promoting their survival, enhanced expression of interleukin-7 (IL-7) in transgenic mice resulted in accumulation of LTi cells. With increased IL-7 availability, de novo formation of VCAM-1+ Peyer's patch anlagen occurred along the entire fetal gut resulting in a 5-fold increase in Peyer's patch numbers. IL-7 overexpression also led to formation of multiple organized ectopic lymph nodes and cecal patches. After immunization, ectopic lymph nodes developed normal T cell-dependent B cell responses and germinal centers. Mice overexpressing IL-7 but lacking either RORgamma, a factor required for LTi cell generation, or lymphotoxin alpha1beta2 had neither Peyer's patches nor ectopic lymph nodes. Therefore, by controlling LTi cell numbers, IL-7 can regulate the formation of both normal and ectopic lymphoid organs.

2015 Iowa Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the State Hygienic Laboratory (SHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. From 1983 to 2014, this monitoring effort was known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Beginning in 2015, the only statewide fish contaminant-monitoring program in Iowa was changed to the Iowa Fish Tissue Monitoring Program (IFTMP). The IFTMP is administered by IDNR and the tissue analyses are completed at the SHL. Historically, the data generated from the IFTMP have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The IFTMP incorporates five different types of monitoring sites: 1) status, 2) follow-up, 3) trend, 4) turtle, and 5) random.

2014 Iowa Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the State Hygienic Laboratory (SHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. From 1983 to 2014, this monitoring effort was known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Beginning in 2015, the only statewide fish contaminant-monitoring program in Iowa was changed to the Iowa Fish Tissue Monitoring Program (IFTMP). The IFTMP is administered by IDNR and the analyses are completed at the SHL. Historically, the data generated from the IFTMP have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The IFTMP incorporates five different types of monitoring sites: 1) status, 2) follow-up, 3) trend, 4) turtle, and 5) random.

2013 Iowa Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the State Hygienic Laboratory (SHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The Iowa RAFT monitoring program incorporates five different types of monitoring sites: 1) status, 2) follow-up, 3) trend, 4) turtle, and 5) random.

2012 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the State Hygienic Laboratory (SHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The Iowa RAFT monitoring program incorporates five different types of monitoring sites: 1) status, 2) follow-up, 3) trend, 4) turtle, and 5) random.

2011 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the State Hygienic Laboratory (SHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The Iowa RAFT monitoring program incorporates five different types of monitoring sites: 1) status, 2) trend, 3) follow-up, 4) turtle, and 5) random.

2010 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the State Hygienic Laboratory (SHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The Iowa RAFT monitoring program incorporates five different types of monitoring sites: 1) status, 2) trend, 3) random, 4) follow-up and 5) turtle.

2009 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the University of Iowa Hygienic Laboratory (UHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The Iowa RAFT monitoring program incorporates four different types of monitoring sites: 1) status, 2) trend, 3) random and 4) follow-up. New for 2009 was the one-time inclusion of snapping turtle tissue as part of the Iowa RAFT sampling program.

2008 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the University of Iowa Hygienic Laboratory (UHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006). The Iowa RAFT monitoring program incorporates four different types of monitoring sites: 1) status, 2) trend, 3) random and 4) follow-up.

2006/2007 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the University of Iowa Hygienic Laboratory (UHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (RAFT). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans (see IDNR 2006a). The Iowa RAFT monitoring program incorporates four different types of monitoring sites: 1) status, 2) trend, 3) random and 4) follow-up.

2005 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the University of Iowa Hygienic Laboratory (UHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became known as the Regional Ambient Fish Tissue Monitoring Program (the RAFT program). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans. The Iowa RAFT monitoring program incorporates three different types of monitoring sites: 1) status, 2) trend, and 3) follow-up.

2004 Regional Ambient Fish Tissue Monitoring Program Summary of Analyses

To supplement other environmental monitoring programs and to protect the health of people consuming fish from waters within this state, the state of Iowa conducts fish tissue monitoring. Since 1980, the Iowa Department of Natural Resources (IDNR), the United States Environmental Protection Agency Region VII (U.S. EPA), and the University of Iowa Hygienic Laboratory (UHL) have cooperatively conducted annual statewide collections and analyses of fish for toxic contaminants. Beginning in 1983, this monitoring effort became the Regional Ambient Fish Tissue Monitoring Program (the RAFT program). Currently, the RAFT program is the only statewide fish contaminant-monitoring program in Iowa. Historically, the data generated from the RAFT program have enabled IDNR to document temporal changes in contaminant levels and to identify Iowa lakes and rivers where high levels of contaminants in fish potentially threaten the health of fish-consuming Iowans. The Iowa RAFT monitoring program incorporates three different but equally important types of monitoring sites: 1) status, 2) trend, and 3) follow-up.