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Delineation Of Precursors In Murine Spleen That Develop In Contact With Splenic Endothelium To Give Novel Dendritic-Like Cells., Jonathan Tan, Pravin Periasamy, Helen O'Neill Sep 2015

Delineation Of Precursors In Murine Spleen That Develop In Contact With Splenic Endothelium To Give Novel Dendritic-Like Cells., Jonathan Tan, Pravin Periasamy, Helen O'Neill

Jonathan Tan

Hematopoietic cell lineages are best described in terms of distinct progenitors with limited differentiative capacity. To distinguish cell lineages, it is necessary to define progenitors and induce their differentiation in vitro. We previously reported in vitro development of immature dendritic-like cells (DCs) in long-term cultures (LTCs) of murine spleen, and in cocultures of spleen or bone marrow (BM) over splenic endothelial cell lines derived from LTCs. Cells produced are phenotypically distinct CD11b(hi)CD11c(lo)CD8(-)MHC-II(-) cells, tentatively named L-DCs. Here we delineate L-DC progenitors as different from known DC progenitors in BM and DC precursors in spleen. The progenitor is contained within the …


Haematopoietic Stem Cells In Spleen Have Distinct Differentiative Potential For Antigen Presenting Cells., Jonathan Tan, Helen O'Neill Sep 2015

Haematopoietic Stem Cells In Spleen Have Distinct Differentiative Potential For Antigen Presenting Cells., Jonathan Tan, Helen O'Neill

Jonathan Tan

Dendritic cells (DC) are known to develop from macrophage dendritic progenitors (MDP) in bone marrow (BM), which give rise to conventional (c)DC and monocytes, both dominant antigen presenting cell (APC) subsets in spleen. This laboratory has however defined a distinct dendritic-like cell subset in spleen (L-DC), which can also be derived in long-term cultures of spleen. In line with the restricted in vitro development of only L-DC in these stromal cultures, we questioned whether self-renewing HSC or progenitors exist in spleen with restricted differentiative capacity for only L-DC. Neonatal spleen and BM were compared for their ability to reconstitute mice …


Concise Review: Dendritic Cell Development In The Context Of The Spleen Microenvironment, Jonathan Tan, Helen O'Neill Sep 2015

Concise Review: Dendritic Cell Development In The Context Of The Spleen Microenvironment, Jonathan Tan, Helen O'Neill

Jonathan Tan

The dendritic cell (DC) population in spleen comprises a mixture of cells including endogenous DC progenitors, DC precursors migrating in from blood and bone marrow, and DC in different states of differentiation and activation. A role for different microenvironments in supporting the dynamic development of murine DC of different types or lineages is considered here. Recent evidence for production of DC dependent on splenic stromal cells is reviewed in the light of evidence that cell production is dependent on cells comprising an endothelial niche in spleen. The possibility that self-renewing progenitors in spleen give rise to DC with tolerogenic or …


The Larvae Of Eurycea Junaluska (Amphibia: Caudata: Plethodontidae), With Comments On Distribution, Travis Ryan Feb 2015

The Larvae Of Eurycea Junaluska (Amphibia: Caudata: Plethodontidae), With Comments On Distribution, Travis Ryan

Travis J. Ryan

Travis J. Ryan's shorter contribution to Copeia 1997.


Ultrastructure Of The Reproductive System Of The Black Swamp Snake (Seminatrix Pygaea): Part Ii. Annual Oviducal Cycle, David Sever, Travis Ryan, Deborah Patton, Shannon Swafford Feb 2015

Ultrastructure Of The Reproductive System Of The Black Swamp Snake (Seminatrix Pygaea): Part Ii. Annual Oviducal Cycle, David Sever, Travis Ryan, Deborah Patton, Shannon Swafford

Travis J. Ryan

This article is the first ultrastructural study on the annual oviducal cycle in a snake. The ultrastructure of the oviduct was studied in 21 females of the viviparous natricine snake Seminatrix pygaea. Specimens were collected and sacrificed in March, May, June, July, and October from one locale in South Carolina during 1998–1999. The sample included individuals: 1) in an inactive reproductive condition, 2) mated but prior to ovulation, and 3) from early and late periods of gravidity. The oviduct possesses four distinct regions from cranial to caudal: the anterior infundibulum, the posterior infundibulum containing sperm storage tubules (SSTs), the uterus, …


Does Sex Influence Post-Reproductive Metamorphosis In Ambystoma Talpoideum?, Travis Ryan, Gabrielle Swenson Feb 2015

Does Sex Influence Post-Reproductive Metamorphosis In Ambystoma Talpoideum?, Travis Ryan, Gabrielle Swenson

Travis J. Ryan

Shorter communication in the Journal of Herpetology v. 35.


Growth And The Expression Of Alternative Life Cycles In The Salamander Ambystoma Talpoideum (Caudata: Ambystomatidae), Travis Ryan, Raymond Semlitsch Feb 2015

Growth And The Expression Of Alternative Life Cycles In The Salamander Ambystoma Talpoideum (Caudata: Ambystomatidae), Travis Ryan, Raymond Semlitsch

Travis J. Ryan

Complex life cycles (CLCs) contain larval and adult phases that are morphologically and ecologically distinct. Simple life cycles (SLCs) have evolved from CLCs repeatedly in a wide variety of lineages but the processes that may underlie the transition have rarely been identified or investigated experimentally. We examined the influence of larval growth rate on the facultative expression of alternative life cycles (metamorphosis or maturation as gill-bearing adults [= paedomorphosis]) in the salamander Ambystoma talpoideum. We manipulated growth rates by altering the amount of food individuals received throughout larval development. The expression of alternative life cycles in A. talpoideum is influenced …


Evaporative Water Loss In Two Natricine Snakes, Nerodia Fasciata And Seminatrix Pygaea, Christopher Winne, Travis Ryan, Yale Leiden, Michael Dorcas Feb 2015

Evaporative Water Loss In Two Natricine Snakes, Nerodia Fasciata And Seminatrix Pygaea, Christopher Winne, Travis Ryan, Yale Leiden, Michael Dorcas

Travis J. Ryan

Shorter communication in Journal of Herpetology v. 35.


Aspects Of Sex-Specific Differences In The Expression Of An Alternative Life Cycle In The Salamander Ambystoma Talpoideum, Christopher Winne, Travis Ryan Feb 2015

Aspects Of Sex-Specific Differences In The Expression Of An Alternative Life Cycle In The Salamander Ambystoma Talpoideum, Christopher Winne, Travis Ryan

Travis J. Ryan

A recent evolutionary ecological model of facultative paedomorphosis predicts that body size of mature individuals should be larger than immatures of the same cohort. We investigated sex-specific differences in body size and maturation within a single cohort of branchiate (= larval and paedomorphic) mole salamanders, Ambystoma talpoideum. In addition, we also sampled the population after the breeding season, as some individuals began to undergo metamorphosis and leave the pond. The branchiate population was female-biased (62.7%), and mature (paedomorphic) females were significantly smaller than paedomorphic males or immature (larval) females. The majority of male branchiates were mature (86.6%), whereas significantly fewer …


Geographic Distribution. Farancia Abacura., Kate Ingram, Travis Perry, Travis Ryan Feb 2015

Geographic Distribution. Farancia Abacura., Kate Ingram, Travis Perry, Travis Ryan

Travis J. Ryan

Geographic distribution of the mud snake.


Life History Evolution And Adaptive Radiation Of Hemidactyliine Salamanders, Travis Ryan, R. Bruce Feb 2015

Life History Evolution And Adaptive Radiation Of Hemidactyliine Salamanders, Travis Ryan, R. Bruce

Travis J. Ryan

T.J. Ryan and R.C. Bruce's contribution to: The Biology of Plethodontid Salamanders, R. C. Bruce, R. G. Jaeger, and L. D. Houck, eds. Kluwer Academic/Plenum Publishers, New York.


Ultrastructure Of The Reproductive System Of The Black Swamp Snake (Seminatrix Pygaea). I. Evidence For Oviducal Sperm Storage, David Sever, Travis Ryan Feb 2015

Ultrastructure Of The Reproductive System Of The Black Swamp Snake (Seminatrix Pygaea). I. Evidence For Oviducal Sperm Storage, David Sever, Travis Ryan

Travis J. Ryan

Oviducal sperm storage in the viviparous (lecithotrophic) colubrid snake Seminatrix pygaea was studied by light and electron microscopy. Out of 17 adult snakes examined from May–October, sperm were found in the oviducts of only two specimens. In a preovulatory female sacrificed 14 May, sperm were found in the oviducal lumen and sperm storage tubules (SSTs) of the posterior infundibulum. In a nonvitellogenic female sacrificed 9 June, sperm were found in the lumen and glands of the posterior uterus and anterior vagina, indicating a recent mating. The glands in the posterior infundibulum and vagina were simple or compound tubular, whereas glands …


Seminatrix Pygaea. Diet., Mark Mills, Travis Ryan, Sean Poppy, Anthony Mills, Michael Dorcas Feb 2015

Seminatrix Pygaea. Diet., Mark Mills, Travis Ryan, Sean Poppy, Anthony Mills, Michael Dorcas

Travis J. Ryan

Diet of black swamp snake.


Sex And Size Interaction And Standard Metabolic Rate Of Paedomorphic Ambystoma Talpoideum: Size Does Matter, Travis Ryan, William Hopkins Feb 2015

Sex And Size Interaction And Standard Metabolic Rate Of Paedomorphic Ambystoma Talpoideum: Size Does Matter, Travis Ryan, William Hopkins

Travis J. Ryan

We measured the standard metabolic rate of paedomorphic Mole Salamanders (Ambystoma talpoideum) from South Carolina. Despite an absence of body size differences between females and males, analysis of covariance demonstrated metabolic rates (mL O2/h) were significantly influenced by an interaction between sex and body size. The interaction appeared as a result of changes in the size-metabolism relationship in males (a steeper slope in the size-metabolism regression in small males as compared to large males), whereas the relationship remained constant in females, regardless of size. We hypothesize that the observed differences are attributable to differences in reproductive physiology between the sexes. …


Larval Life History And Abundance Of A Rare Salamander, Eurycea Junaluska (Plethodontidae), Travis Ryan Feb 2015

Larval Life History And Abundance Of A Rare Salamander, Eurycea Junaluska (Plethodontidae), Travis Ryan

Travis J. Ryan

The larval life history of Eurycea junaluska was studied in three southwestern North Carolina populations. Populations were sampled quarterly over a 13 mo period and size-class analyses were used to evaluate the pattern of larval growth and metamorphosis. Young of the year appeared in the late spring and experienced rapid growth through the first summer. Growth slowed in the second year and metamorphosis usually occured in the summer at about 25.5 mo post-hatching, although some data suggest that either 1yr or 3yr larval periods may be possible. The overall larval growth rate of E. junaluska is estimated at 1.27 mm/mo, …


Characterization Of Fusobacterium Isolates From The Respiratory Tract Of White-Tailed Deer (Odocoileus Virginianus ), Amit Kumar, Dvm, Ms, Phd Mar 2014

Characterization Of Fusobacterium Isolates From The Respiratory Tract Of White-Tailed Deer (Odocoileus Virginianus ), Amit Kumar, Dvm, Ms, Phd

Amit Kumar, DVM, MS, PhD

A total of 23 clinical isolates of Fusobacterium spp. were recovered at necropsy over a 2-year period from the respiratory tract of white-tailed deer (Odocoileus virginianus). Isolates were identified as Fusobacterium varium (18/23),Fusobacterium necrophorum subsp. funduliforme (3/23), and Fusobacterium necrophorum subsp. necrophorum (2/23). Usingpolymerase chain reaction–based detection of virulence genes, all F. necrophorum isolates were positive for the promoter region of the leukotoxin operon and the hemagglutinin-related protein gene, while all F. varium isolates were negative. The presence of the leukotoxin gene in F. necrophorum isolates and the absence of this gene in F. varium isolates were confirmed by Southern …


The Evolution Of Billfish, Andrew Blitman Dec 2013

The Evolution Of Billfish, Andrew Blitman

Andrew Blitman

No abstract provided.


Fibers In The Extracellular Matrix Enable Long-Range Stress Transmission Between Cells, Xiaoyue Ma, Maureen Schickel, Mark Stevenson, Alisha Sarang-Sieminski, Keith Gooch, Samir Ghadiali, Richard Hart Sep 2013

Fibers In The Extracellular Matrix Enable Long-Range Stress Transmission Between Cells, Xiaoyue Ma, Maureen Schickel, Mark Stevenson, Alisha Sarang-Sieminski, Keith Gooch, Samir Ghadiali, Richard Hart

Alisha L. Sarang-Sieminski

Cells can sense, signal, and organize via mechanical forces. The ability of cells to mechanically sense and respond to the presence of other cells over relatively long distances (e.g., ∼100 μm, or ∼10 cell-diameters) across extracellular matrix (ECM) has been attributed to the strain-hardening behavior of the ECM. In this study, we explore an alternative hypothesis: the fibrous nature of the ECM makes long-range stress transmission possible and provides an important mechanism for long-range cell-cell mechanical signaling. To test this hypothesis, confocal reflectance microscopy was used to develop image-based finite-element models of stress transmission within fibroblast-seeded collagen gels. Models that …


Adhesion Of Fusobacterium Necrophorum To Bovine Endothelial Cells Is Mediated By Outer Membrane Proteins, Amit Kumar Dec 2012

Adhesion Of Fusobacterium Necrophorum To Bovine Endothelial Cells Is Mediated By Outer Membrane Proteins, Amit Kumar

Amit Kumar, DVM, MS, PhD

Fusobacterium necrophorum, a Gram-negative anaerobe, is frequently associated with suppurative and necrotic infections of animals and humans. The organism is a major bovine pathogen, and in cattle, the common fusobacterial infections are hepatic abscesses, foot rot, and necrotic laryngitis. The species comprises two subspecies: F. necrophorum subsp. necrophorum and F. necrophorum subsp. funduliforme. Bacterial adhesion to the host cell surface is a critical initial step in the pathogenesis, and outer membrane proteins (OMP) play an important role in adhesion and establishment of certain Gram-negative bacterial infections. The means by which F. necrophorum attaches to epithelial or endothelial cells has not …


Production Of Nitrogen-Based Platform Chemical: Cyanophycin Biosynthesis Using Recombinant Escherichia Coli And Renewable Media Substitutes, Amit Kumar Dec 2012

Production Of Nitrogen-Based Platform Chemical: Cyanophycin Biosynthesis Using Recombinant Escherichia Coli And Renewable Media Substitutes, Amit Kumar

Amit Kumar, DVM, MS, PhD

BACKGROUND:Cyanophycin (CGP) is a sustainable polymer that can be converted to a derivative with reduced arginine content, or to completely biodegradable poly-aspartic acid, which can substitute for non-biodegradable polyacrylates. In nature, it is produced by most cyanobacteria; however, these microbes are not suitable for large-scale production due to slow growth and low polymer content. RESULTS: Cyanophycin synthetase gene (cphA) from Anabaena variabilis ATCC 29413 was PCR amplified and cloned into Escherichiacoli.Differentrenewablemediacomponents,suchassoybeanmeal,potatowastesandcorn-derivedzein hydrolysate, were evaluated for their feasibility for CGP production at shake flask level. The optimized conditions were then tested in a 7 L bioreactor; a maximum cell weight of …


Characterization Of Fusobacterium Necrophorum Isolated From Llama And Alpaca, Amit Kumar Dec 2012

Characterization Of Fusobacterium Necrophorum Isolated From Llama And Alpaca, Amit Kumar

Amit Kumar, DVM, MS, PhD

Fusobacterium necrophorum, a Gram-negative, anaerobic bacterium, is an opportunistic animal and human pathogen that causes a variety of infections termed necrobacillosis. There are 2 subspecies of F. necrophorum (subsp. necrophorum and subsp. funduliforme) that differ morphologically and biochemically and in virulence. Leukotoxin, a secreted protein, is considered to be the major virulence factor. In camelids, F. necrophorum causes a variety of infections, generally involving the lips, tongue, pharynx, interdigital spaces, foot pad, larynx, mandible, or maxillary bones. The objective of the current study was to characterize the presumptive Fusobacterium isolates from a variety of necrotic infections in llama (Lama glama) …


Outer Membrane Proteins Of Fusobacterium Necrophorum, Amit Kumar Dec 2012

Outer Membrane Proteins Of Fusobacterium Necrophorum, Amit Kumar

Amit Kumar, DVM, MS, PhD

Fusobacterium necrophorum, classified into subsp. necrophorum (Fnn) and subsp. funduliforme (Fnf), is frequently associated with necrotic infections of animals and humans. The outer membrane proteins (OMP) of many Gram negative bacteria play an important role in bacterial adhesion and establishment of infection. The OMP profile of F. necrophorum has not been well characterized. We analyzed OMP of bovine strains of Fnn and Fnf and human strains of F. necrophorum. Electrophoretic separations of extracted OMP of Fnn and Fnf strains of cattle showed a total of 19 and 20 protein bands, respectively. The most prominent protein band was 40 kDa in …


Eight Is Enough?: The Ethics Of The California Octuplets Case, Scott Paeth Oct 2012

Eight Is Enough?: The Ethics Of The California Octuplets Case, Scott Paeth

Scott R. Paeth

The recent California octuplets case raises a number of important issues that need to be addressed in the context of the increasingly widespread practice of in vitro fertilization. This paper explores some of those issues as looked at from the perspective of protestant theological ethics and public theology, examining the moral responsibilities of the various participants in the process, both before and after the octuplets’ birth, including the mother, her doctors, the health care bureaucracy, the wider society, and the media. Each of these participants failed in significant respects to consider the ethical implications of the births in this complicated …


Use Of Highly Polymorphic Dna Probes For Genotypic Analysis Following Bone Marrow Transplantation, Robert Knowlton, Valerie Brown, Jeffrey Braman, David Barker, James Schumm, Christine Murray, Tak Takvorian, Jerome Ritz, Helen Donis-Keller Aug 2012

Use Of Highly Polymorphic Dna Probes For Genotypic Analysis Following Bone Marrow Transplantation, Robert Knowlton, Valerie Brown, Jeffrey Braman, David Barker, James Schumm, Christine Murray, Tak Takvorian, Jerome Ritz, Helen Donis-Keller

Helen Donis-Keller

The use of DNA markers known as restriction fragment length polymorphisms is a sensitive and informative method of distinguishing patient and allogeneic donor cells after bone marrow transplantation. To apply the test, it is necessary in each case to find DNA probes that display patient-specific and donor-specific bands in Southern transfer hybridization. We have isolated a set of 12 cloned DNAs from highly polymorphic loci by which siblings can usually be distinguished. With just four of these probes, we can expect to distinguish the genotypes of the recipient and a sibling donor in more than 99% of cases (except between …


Mutations In The Ret Proto-Oncogene Are Associated With Men 2a And Fmtc, Helen Donis-Keller, Shenshen Dou, David Chi, Katrin Carlson, Koi Toshima, Terry Lairmore, James Howe, Jeffrey Moley, Paul Goodfellow, Samuel Wells Aug 2012

Mutations In The Ret Proto-Oncogene Are Associated With Men 2a And Fmtc, Helen Donis-Keller, Shenshen Dou, David Chi, Katrin Carlson, Koi Toshima, Terry Lairmore, James Howe, Jeffrey Moley, Paul Goodfellow, Samuel Wells

Helen Donis-Keller

Multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are dominantly inherited conditions which predispose to the development of endocrine neoplasia. Evidence is presented that sequence changes within the coding region of the RET proto-oncogene, a putative transmembrane tyrosine kinase, may be responsible for the development of neoplasia in these inherited disorders. Single strand conformational variants (SSCVs) in exons 7 and 8 of the RET proto-oncogene were identified in eight MEN 2A and four FMTC families. The variants were observed only in the DNA of individuals who were either affected or who had inherited the MEN2A …


Single Missense Mutation In The Tyrosine Kinase Catalytic Domain Of The Ret Protooncogene Is Associated With Multiple Endocrine Neoplasia Type 2b., Katrin Carlson, Shenshen Dou, David Chi, N. Scavarda, Koi Toshima, C. Jackson, Samuel Wells, Paul Goodfellow, Helen Donis-Keller Aug 2012

Single Missense Mutation In The Tyrosine Kinase Catalytic Domain Of The Ret Protooncogene Is Associated With Multiple Endocrine Neoplasia Type 2b., Katrin Carlson, Shenshen Dou, David Chi, N. Scavarda, Koi Toshima, C. Jackson, Samuel Wells, Paul Goodfellow, Helen Donis-Keller

Helen Donis-Keller

Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic abnormalities. It appears both as an inherited disorder and as de novo disease. Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation in the RET protooncogene in 34 unrelated individuals. This sequence difference was not observed in 93 unaffected individuals, including the normal parents of 14 de novo MEN 2B patients. The mutation (ATG-->ACG) results in the replacement of methionine with …


A Genetic Linkage Map Of The Human Genome, Helen Donis-Keller, Philip Green, Cynthia Helmes, Samuel Cartinhour, Barbara Weiffenbach, Karen Stephens, Tim Keith, Donald Bowden, Douglas Smith, Eric Lander, David Botstein, Gita Akots, Kenneth Rediker, Thomas Gravius, Valerie Brown, Marcia Rising, Carol Parker, Jody Powers, Diane Watt, Erick Kauffman, Angela Bricker, Pamela Phipps, Hans Muller-Kahle, Thomas Fulton, Siu Ng, James Schumm, Jeffrey Braman, Robert Knowlton, David Barker, Steven Crooks, Steven Lincoln, Mark Daly, Jeff Abrahamson Aug 2012

A Genetic Linkage Map Of The Human Genome, Helen Donis-Keller, Philip Green, Cynthia Helmes, Samuel Cartinhour, Barbara Weiffenbach, Karen Stephens, Tim Keith, Donald Bowden, Douglas Smith, Eric Lander, David Botstein, Gita Akots, Kenneth Rediker, Thomas Gravius, Valerie Brown, Marcia Rising, Carol Parker, Jody Powers, Diane Watt, Erick Kauffman, Angela Bricker, Pamela Phipps, Hans Muller-Kahle, Thomas Fulton, Siu Ng, James Schumm, Jeffrey Braman, Robert Knowlton, David Barker, Steven Crooks, Steven Lincoln, Mark Daly, Jeff Abrahamson

Helen Donis-Keller

We report the construction of a linkage map of the human genome, based on the pattern of inheritance of 403 polymorphic loci, including 393 RFLPs, in a panel of DNAs from 21 three-generation families. By a combination of mathematical linkage analysis and physical localization of selected clones, it was possible to arrange these loci into linkage groups representing 23 human chromosomes. We estimate that the linkage map is detectably linked to at least 95% of the DNA in the human genome.


Genetic Analysis Of Eight Loci Tightly Linked To Neurofibromatosis 1, Karen Stephens, Philip Green, V. Riccardi, Siu Ng, Marcia Rising, David Barker, J. Darby, K. Falls, F. Collins, H. Willard, Helen Donis-Keller Aug 2012

Genetic Analysis Of Eight Loci Tightly Linked To Neurofibromatosis 1, Karen Stephens, Philip Green, V. Riccardi, Siu Ng, Marcia Rising, David Barker, J. Darby, K. Falls, F. Collins, H. Willard, Helen Donis-Keller

Helen Donis-Keller

The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this …


A Polymorphic Dna Marker Linked To Cystic Fibrosis Is Located On Chromosome 7, Robert Knowlton, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie Brown, David Barker, Jeffrey Braman, James Schumm, Lap-Chee Tsui, Manuel Buchwald, Helen Donis-Keller Aug 2012

A Polymorphic Dna Marker Linked To Cystic Fibrosis Is Located On Chromosome 7, Robert Knowlton, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie Brown, David Barker, Jeffrey Braman, James Schumm, Lap-Chee Tsui, Manuel Buchwald, Helen Donis-Keller

Helen Donis-Keller

Although cystic fibrosis (CF) is among the most common inherited diseases in Caucasian populations, the basic biochemical defect is not yet known. CF is inherited as an autosomal recessive trait apparently due to mutations in a single gene, whence the efforts made to identify the genetic locus responsible by linkage studies. Two markers have recently been identified that are genetically linked to CF: one is a genetic variation in serum level of activity of the enzyme paraoxonase, and the other is a restriction fragment length polymorphism (RFLP) identified with a randomly isolated DNA probe. We report here that the genetic …


Chromosomal Bar Codes Produced By Multicolor Fluorescence In Situ Hybridization With Multiple Yac Clones And Whole Chromosome Painting Probes, Christoph Lengauer, Michael Speicher, Susanne Popp, Anna Jauch, Masafumi Taniwaki, Ramaiah Nagaraja, Harold Riethman, Helen Donis-Keller, Michele D'Urso, David Schelssinger, Thomas Cremer Aug 2012

Chromosomal Bar Codes Produced By Multicolor Fluorescence In Situ Hybridization With Multiple Yac Clones And Whole Chromosome Painting Probes, Christoph Lengauer, Michael Speicher, Susanne Popp, Anna Jauch, Masafumi Taniwaki, Ramaiah Nagaraja, Harold Riethman, Helen Donis-Keller, Michele D'Urso, David Schelssinger, Thomas Cremer

Helen Donis-Keller

Colored chromosome staining patterns, termed chromosomal ‘bar codes’ (CBCs), were obtained on human chromosomes by fluorescence in situhybridization (FISH) with pools of Alu-PCR products from YAC dones containing human DNA inserts ranging from 100 kbp to 1 Mbp. In contrast to conventional G- or R-bands, the chromosomal position, extent, Individual color and relative signal intensity of each ‘bar’ could be modified depending on probe selection and labeling procedures. Alu-PCR amplification products were generated from 31 YAC clones which mapped to 37 different chromosome bands. For multiple color FISH, Alu-PCR amplification products from various clones were either biotinylated or labeled …