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1.
Opt Express ; 21(21): 24665-73, 2013 Oct 21.
Article in English | MEDLINE | ID: mdl-24150310

ABSTRACT

We have investigated the lasing characteristics of Tm:LSO crystal in three operation regimes: continuous wave (CW), wavelength tunable and passive Q-switching based on graphene. In CW regime, a maximum output power of 0.65 W at 2054.9 nm with a slope efficiency of 21% was achieved. With a quartz plate, a broad wavelength tunable range of 145 nm was obtained, corresponding to a FWHM of 100 nm. By using a graphene saturable absorber mirror, the passively Q-switched Tm:LSO laser produced pulses with duration of 7.8 µs at 2030.8 nm under a repetition rate of 7.6 kHz, corresponding to pulse energy of 14.0 µJ.

2.
HPB (Oxford) ; 4(3): 131-3, 2002.
Article in English | MEDLINE | ID: mdl-18332940

ABSTRACT

Bronchio biliary fistula in adults is a rare event defined by the passage of bile into the bronchus and the sputum (biloptysis).Typically these lesions occur in the congenital form, as a result of thoracoabdominal trauma, or in rare instances as a result of iatrogenic injury or long-standing biliary tract disease and obstruction. In this paper, we report a novel case of a fatal bronchobiliary fistula that developed in a 67-year-old Chinese male with Oriental cholangiohepatitis. To our knowledge, this is the first case report of a bronchobiliary fistula complicating the clinical management of a patient with this disease.

4.
Am J Physiol Cell Physiol ; 279(3): C771-84, 2000 Sep.
Article in English | MEDLINE | ID: mdl-10942728

ABSTRACT

To identify novel potassium channel genes expressed in the retina, we screened a human retina cDNA library with an EST sequence showing partial homology to inwardly rectifying potassium (Kir) channel genes. The isolated cDNA yielded a 2,961-base pair sequence with the predicted open reading frame showing strong homology to the rat Kir2. 4 (rKir2.4). Northern analysis of mRNA from human and bovine tissues showed preferential expression of Kir2.4 in the neural retina. In situ hybridization to sections of monkey retina detected Kir2.4 transcript in most retinal neurons. Somatic hybridization analysis and dual-color in situ hybridization to metaphase chromosomes mapped Kir2.4 to human chromosome 19 q13.1-q13.3. Expression of human Kir2. 4 cRNA in Xenopus oocytes generated strong, inwardly rectifying K(+) currents that were enhanced by extracellular alkalinization. We conclude that human Kir2.4 encodes an inwardly rectifying K(+) channel that is preferentially expressed in the neural retina and that is sensitive to physiological changes in extracellular pH.


Subject(s)
Cloning, Molecular , Potassium Channels, Inwardly Rectifying , Potassium Channels/genetics , Potassium Channels/metabolism , Retina/metabolism , Amino Acid Sequence/genetics , Animals , Barium/pharmacology , Base Sequence/genetics , Cattle , Cesium/pharmacology , Chromosome Mapping , Electrophysiology , Extracellular Space/metabolism , Humans , Hydrogen-Ion Concentration , Macaca mulatta , Molecular Sequence Data , Oocytes/metabolism , Potassium/metabolism , Potassium Channel Blockers , Potassium Channels/physiology , RNA, Messenger/metabolism , Tissue Distribution , Xenopus laevis
5.
Genomics ; 66(1): 43-7, 2000 May 15.
Article in English | MEDLINE | ID: mdl-10843803

ABSTRACT

The glycine N-methyltransferase (GNMT) gene encodes a protein that not only acts as an enzyme to regulate the ratio of S-adenosylmethionine to S-adenosylhomocysteine, but also participates in the detoxification pathway in liver cells. Previously, we reported that the expression level of GNMT was diminished in human hepatocellular carcinoma. In this study, the human GNMT gene was cloned and characterized. It contains six exons and spans about 10 kb. Instead of a TATA box, it has a transcriptional initiator located 801 bp upstream from the translation start codon. The gene was localized to chromosome 6p12 using fluorescence in situ hybridization. Northern blot analysis of 16 tissues from different human organs showed that GNMT was expressed only in liver, pancreas, and prostate.


Subject(s)
Chromosome Mapping , Gene Expression , Methyltransferases/genetics , Adult , Base Sequence , Carcinoma, Hepatocellular/genetics , Female , Fetus/metabolism , Gene Library , Glycine N-Methyltransferase , Humans , Liver/metabolism , Male , Molecular Sequence Data , Pancrelipase/metabolism , Prostate/metabolism , RNA, Messenger/metabolism , Tissue Distribution
6.
Am J Physiol Cell Physiol ; 278(5): C1019-30, 2000 May.
Article in English | MEDLINE | ID: mdl-10794676

ABSTRACT

We have cloned and functionally characterized the human Na(+)-dependent high-affinity dicarboxylate transporter (hNaDC3) from placenta. The hNaDC3 cDNA codes for a protein of 602 amino acids with 12 transmembrane domains. When expressed in mammalian cells, the cloned transporter mediates the transport of succinate in the presence of Na(+) [concentration of substrate necessary for half-maximal transport (K(t)) for succinate = 20+/-1 microM]. Dimethylsuccinate also interacts with hNaDC3. The Na(+)-to-succinate stoichiometry is 3:1 and concentration of Na(+) necessary for half-maximal transport (K(Na(+))(0.5)) is 49+/-1 mM as determined by uptake studies with radiolabeled succinate. When expressed in Xenopus laevis oocytes, hNaDC3 induces Na(+)-dependent inward currents in the presence of succinate and dimethylsuccinate. At a membrane potential of -50 mV, K(Suc)(0.5) is 102+/-20 microM and K(Na(+))(0.5) is 22+/-4 mM as determined by the electrophysiological approach. Simultaneous measurements of succinate-evoked charge transfer and radiolabeled succinate uptake in hNaDC3-expressing oocytes indicate a charge-to-succinate ratio of 1:1 for the transport process, suggesting a Na(+)-to-succinate stoichiometry of 3:1. pH titration of citrate-induced currents shows that hNaDC3 accepts preferentially the divalent anionic form of citrate as a substrate. Li(+) inhibits succinate-induced currents in the presence of Na(+). Functional analysis of rat-human and human-rat NaDC3 chimeric transporters indicates that the catalytic domain of the transporter lies in the carboxy-terminal half of the protein. The human NaDC3 gene is located on chromosome 20q12-13.1, as evidenced by fluorescent in situ hybridization. The gene is >80 kbp long and consists of 13 exons and 12 introns.


Subject(s)
Carrier Proteins/chemistry , Carrier Proteins/metabolism , Dicarboxylic Acid Transporters , Dicarboxylic Acids/metabolism , Membrane Proteins/chemistry , Membrane Proteins/metabolism , Organic Anion Transporters, Sodium-Dependent , Sodium/metabolism , Symporters , Amino Acid Sequence , Animals , Carrier Proteins/genetics , Cell Line , Chromosome Mapping , Chromosomes, Human, Pair 20/genetics , DNA, Complementary/genetics , Female , Humans , Kinetics , Membrane Proteins/genetics , Molecular Sequence Data , Oocytes/metabolism , Pigment Epithelium of Eye/metabolism , Rats , Recombinant Fusion Proteins/chemistry , Recombinant Fusion Proteins/genetics , Recombinant Fusion Proteins/metabolism , Sequence Homology, Amino Acid , Xenopus laevis
7.
Invest Ophthalmol Vis Sci ; 41(1): 24-8, 2000 Jan.
Article in English | MEDLINE | ID: mdl-10634596

ABSTRACT

PURPOSE: To delineate the profile of genes expressed in the adult human retina and assign chromosomal location of cDNA clones. METHODS: The end-sequence of random clones from an enriched human retinal cDNA library was analyzed by NCBI database search. Expression profile was established by northern blot analysis, database search, or both. Selected cDNA clones were localized to human chromosomes by somatic cell hybrid analysis, in situ hybridization to metaphase chromosomes, or both. Chromosomal location was also obtained by searching the databases. RESULT: One hundred and thirty-seven clones were isolated from the subtracted retinal library. Fifty-one clones were identical with 35 known human genes in GenBank, and 24 clones corresponded to 23 uncharacterized human expressed sequenced tags (ESTs), novel genes, or both. The remaining 59 clones were not pursued further because they contained bacterial sequences or repetitive elements. Several clones indicated a restricted pattern of expression with high levels of transcripts in the retina. Chromosomal location of novel retinal ESTs is also reported. CONCLUSIONS: This study provides a profile of genes expressed in the adult human retina. One round of subtraction eliminated most constitutively expressed genes and permitted partial normalization of the retinal library. Twenty-three novel genes were identified. The combined information obtained from expression analysis and chromosomal localization of retinal cDNAs should be valuable in identifying candidate genes for diseases involving retinal dysfunction.


Subject(s)
Chromosome Mapping , DNA, Complementary/analysis , Eye Proteins/genetics , Retina/metabolism , Blotting, Northern , Chromosomes, Human/genetics , Databases, Factual , Expressed Sequence Tags , Eye Proteins/metabolism , Gene Expression , Gene Library , Humans , In Situ Hybridization , Transcription, Genetic
8.
J Biol Chem ; 274(21): 14875-83, 1999 May 21.
Article in English | MEDLINE | ID: mdl-10329687

ABSTRACT

We have cloned the human Na+-dependent multivitamin transporter (SMVT), which transports the water-soluble vitamins pantothenate, biotin, and lipoate, from a placental choriocarcinoma cell line (JAR). The cDNA codes for a protein of 635 amino acids with 12 transmembrane domains and 4 putative sites for N-linked glycosylation. The human SMVT exhibits a high degree of homology (84% identity and 89% similarity) to the rat counterpart. When expressed in HRPE cells, the cDNA-induced transport process is obligatorily dependent on Na+ and accepts pantothenate, biotin, and lipoate as substrates. The relationship between the cDNA-specific uptake rate of pantothenate or biotin and Na+ concentration is sigmoidal with a Na+:vitamin stoichiometry of 2:1. The human SMVT, when expressed in Xenopus laevis oocytes, induces inward currents in the presence of pantothenate, biotin, and lipoate in a Na+-, concentration-, and potential-dependent manner. We also report here on the structural organization and chromosomal localization of the human SMVT gene. The SMVT gene is approximately 14 kilobase pairs in length and consists of 17 exons. The SMVT gene is located on chromosome 2p23 as evidenced by somatic cell hybrid analysis and fluorescence in situ hybridization.


Subject(s)
Carrier Proteins/genetics , Membrane Glycoproteins/genetics , Symporters , Amino Acid Sequence , Animals , Base Sequence , Biological Transport, Active , Biotin/metabolism , Carrier Proteins/biosynthesis , Carrier Proteins/isolation & purification , Choriocarcinoma , Chromosome Mapping , Cloning, Molecular , DNA, Complementary/genetics , Female , Humans , Membrane Glycoproteins/biosynthesis , Membrane Glycoproteins/isolation & purification , Molecular Sequence Data , Pantothenic Acid/metabolism , Placenta , Tumor Cells, Cultured , Uterine Neoplasms , Xenopus laevis
9.
Radiology ; 208(3): 717-23, 1998 Sep.
Article in English | MEDLINE | ID: mdl-9722851

ABSTRACT

PURPOSE: To determine the frequency with which ultrasonographically (US) guided core biopsy obviated diagnostic surgical biopsy of nonpalpable breast masses, to calculate the cost savings of diagnosis attributable to US-guided core biopsy, and to compare the costs of US-guided versus stereotactically guided core biopsy. MATERIALS AND METHODS: US-guided core biopsy was performed in 151 consecutive solitary, nonpalpable breast masses in 151 women (age range, 23-80 years) by using a 14-gauge automated gun and needle. Clinical follow-up data were obtained. Cost savings were assessed by using national Medicare reimbursement costs of +385 for US-guided core biopsy, +610 for stereotactic core biopsy, and +1,332 for needle localization and surgical biopsy. RESULTS: US-guided core biopsy obviated a surgical procedure in 128 (85%) of 151 women. The mean adjusted direct cost saving per US-guided core biopsy was +744 per case. Use of US-guided biopsy decreased the cost of diagnosis by 56% (+744/+1,332) over the cost of surgical biopsy. If biopsy had been performed with stereotactic rather than with US guidance, the mean adjusted direct cost saving would have been +519 per case, a 39% (+519/1,332) decrease in the cost of diagnosis compared with the cost of surgical biopsy. CONCLUSION: Percutaneous biopsy of a nonpalpable breast mass with either US or stereotactic guidance is less expensive than surgery, but cost savings are greater with US-guided biopsy.


Subject(s)
Biopsy/economics , Breast/pathology , Ultrasonography, Mammary/economics , Adult , Aged , Aged, 80 and over , Breast Diseases/economics , Breast Diseases/pathology , Breast Neoplasms/economics , Breast Neoplasms/pathology , Cost Savings , Cost-Benefit Analysis , Female , Humans , Middle Aged , Precancerous Conditions/economics , Precancerous Conditions/pathology
10.
Am J Med Genet ; 75(1): 75-7, 1998 Jan 06.
Article in English | MEDLINE | ID: mdl-9450861

ABSTRACT

We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.


Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, Pair 5/genetics , Chromosome Aberrations/pathology , Chromosome Banding , Chromosome Disorders , Chromosome Mapping , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Phenotype , Pregnancy , Trisomy/genetics , Twins, Monozygotic
11.
J Neurochem ; 70(2): 443-51, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9453537

ABSTRACT

Sigma receptor is a protein that interacts with a variety of psychotomimetic drugs including cocaine and amphetamines and is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. Here we report on the structure and organization of the human gene coding for this receptor. The gene is approximately 7 kbp long and contains four exons, interrupted by three introns. Exon 3 is the shortest (93 bp), and exon 4 is the longest (1,132 bp). Among the introns, intron 3 is the longest (approximately 1,250 bp). Exon 2 codes for the single transmembrane domain present in the receptor. 5' rapid amplification of cDNA end reactions with mRNA from the JAR human trophoblast cell line have identified 56 bp upstream of the translation start codon as the initiation site for transcription. This transcription start site has been confirmed by RNase protection analysis. Structural analysis of the 5' flanking region has revealed that the gene is TATA-less. This region, however, contains a CCAATC box in the reverse complement and several GC boxes that are recognition sites for SP1. There are also consensus sequences for the liver-specific transcription factor nuclear factor-1/L, for a variety of cytokine responsive factors, and for the xenobiotic responsive factor called the arylhydrocarbon receptor. Southern blot analysis of the genomic DNA from Chinese hamster-human and mouse-human hybrid cell lines and fluorescent in situ hybridization with human metaphase chromosome spreads have shown that the gene is located on human chromosome 9, band p13, a region known to be associated with different psychiatric disorders.


Subject(s)
Chromosomes, Human, Pair 9 , Exons , Introns , Promoter Regions, Genetic , Receptors, sigma/genetics , Amino Acid Sequence , Base Sequence , Chromosome Mapping , Cloning, Molecular , Genomic Library , Humans , In Situ Hybridization, Fluorescence , Molecular Sequence Data , Polymerase Chain Reaction , Receptors, sigma/biosynthesis , Receptors, sigma/chemistry , Recombinant Proteins/biosynthesis , Recombinant Proteins/chemistry , Sigma-1 Receptor
12.
Proc Natl Acad Sci U S A ; 94(17): 9040-5, 1997 Aug 19.
Article in English | MEDLINE | ID: mdl-9256431

ABSTRACT

The retinoblastoma protein (Rb) plays a critical role in cell proliferation, differentiation, and development. To decipher the mechanism of Rb function at the molecular level, we have systematically characterized a number of Rb-interacting proteins, among which is the clone C5 described here, which encodes a protein of 1,978 amino acids with an estimated molecular mass of 230 kDa. The corresponding gene was assigned to chromosome 14q31, the same region where genetic alterations have been associated with several abnormalities of thyroid hormone response. The protein uses two distinct regions to bind Rb and thyroid hormone receptor (TR), respectively, and thus was named Trip230. Trip230 binds to Rb independently of thyroid hormone while it forms a complex with TR in a thyroid hormone-dependent manner. Ectopic expression of the protein Trip230 in cells, but not a mutant form that does not bind to TR, enhances specifically TR-dependent transcriptional activity. Coexpression of wild-type Rb, but not mutant Rb that fails to bind to Trip230, inhibits such activity. These results not only identify a coactivator molecule that modulates TR activity, but also uncover a role for Rb in a pathway that responds to thyroid hormone.


Subject(s)
Carrier Proteins/metabolism , Phosphoproteins/metabolism , Receptors, Thyroid Hormone/metabolism , Retinoblastoma Protein/metabolism , Signal Transduction , Thyroid Hormones/metabolism , Amino Acid Sequence , Animals , Carrier Proteins/genetics , Cell Line , Chromosomes, Human, Pair 14 , Cloning, Molecular , Humans , Molecular Sequence Data , Phosphoproteins/genetics , Sequence Alignment
13.
Genomics ; 41(3): 397-405, 1997 May 01.
Article in English | MEDLINE | ID: mdl-9169138

ABSTRACT

A human cDNA previously isolated by virtue of its ability to complement partially the ultraviolet sensitivity of a xeroderma pigmentosum cell line was further characterized. The transcription unit is expressed as a single 4.0-kb mRNA that encodes a novel 63-kDa cytoplasmic protein, possibly initiating from an internal AUG codon. The gene encoding this protein, named UVRAG, has been extremely well conserved during evolution, implying an important role for this gene product in cell metabolism. The transcribed mRNA is constitutively expressed in a wide variety of human tissues. The protein encoded by this gene is predicted to contain a coiled-coil structure and is likely to be metabolically unstable based on the occurrence of a strong PEST domain. UVRAG was assigned to human chromosome 11 by Southern hybridization to a somatic cell hybrid panel. Fluorescence in situ hybridization coupled with PCR analysis of human/rodent somatic cell hybrids containing segments of human chromosome 11 has localized this gene to a subregion of 11q13 in between the D11S916 and the D11S906 loci. Importantly, this region has been shown to be amplified in a variety of human malignancies, including breast cancer.


Subject(s)
Chromosomes, Human, Pair 11/genetics , Proteins/genetics , Amino Acid Sequence , Animals , Base Sequence , Chromosome Mapping , Cloning, Molecular , Cricetinae , DNA, Complementary/genetics , Humans , Hybrid Cells , In Situ Hybridization, Fluorescence , Molecular Sequence Data , Molecular Weight , Proteins/chemistry , RNA, Messenger/genetics , RNA, Messenger/metabolism , Radiation Tolerance/genetics , Sequence Homology, Amino Acid , Tissue Distribution , Tumor Suppressor Proteins , Ultraviolet Rays
14.
Am J Med Genet ; 70(2): 134-7, 1997 May 16.
Article in English | MEDLINE | ID: mdl-9128931

ABSTRACT

Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and lie within interval 5B of the Y chromosome. PCR and sequence analysis indicated that our patient carries a normal SRY gene. For an additional comparison of the patient's inv(Y) with the father, two other Y chromosome sequences were examined. Molecular studies of this familial inverted Y chromosome showed no differences in the ZFY and TSPY genes between the father and the patient suggesting that the short arm of our patient's inv(Y) is identical to that of the patient's father. Southern analysis using a probe of the DAX-1 gene indicated that a single copy of DSS (dosage sensitive sex reversal) locus was present in the patient. Our results suggest that the abnormal sexual development in our patient is likely attributable to (an)other mechanism(s) than mutation in the SRY gene and dosage alteration of the DAX-1 gene.


Subject(s)
Chromosome Inversion , Disorders of Sex Development , Gonadal Dysgenesis, 46,XY/genetics , Y Chromosome/genetics , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male
15.
Am J Med Genet ; 68(4): 417-20, 1997 Feb 11.
Article in English | MEDLINE | ID: mdl-9021014

ABSTRACT

A newborn infant with multiple congenital anomalies was diagnosed with an unbalanced translocation of chromosomes 1 and 5. Studies of parental chromosomes revealed a complex rearrangement in the patient's mother involving the exchange of terminal long arms between chromosomes 1 and 5 and the insertion of an interstitial segment from the same chromosome 5q into chromosome 2q by high-resolution G-banding. Further study of the mother's chromosomes by fluorescent in situ hybridization (FISH) detected an additional insertion between the rearranged chromosomes 2 and 5, which was not revealed by G-banding. This led to the identification of a complex translocation-insertion between 3 chromosomes with at least 5 breaks [t(1;5;2)(1pter--> 1q42.3::5q23.2-->5qter;5pter-->5q21.2:: 2q33--> 2q35::1q42.3-->1qter;2pter-->2q33::5q21 .2--> 5q23.2::2q35-->2qter)] and illustrates the value of FISH as an adjunct to standard cytogenetics, particularly in cases of complex rearrangements.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosome Disorders , Adult , Chromosome Banding , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 5 , Cleft Palate/genetics , Female , Heart Septal Defects, Atrial/genetics , Humans , Hypertelorism/genetics , In Situ Hybridization, Fluorescence , Infant , Male , Pregnancy , Skull/abnormalities , Translocation, Genetic
16.
Genomics ; 46(2): 287-90, 1997 Dec 01.
Article in English | MEDLINE | ID: mdl-9417917

ABSTRACT

Ppyr1, Npy5r, and Npy6r, the genes encoding mouse type 4, type 5, and type 6 members of the neuropeptide Y receptor family, have been mapped by interspecific backcross analysis to conserved linkage groups on mouse Chr 14, Chr 8, and Chr 18, respectively. The human genes, PPYR1 and NPY5R, have been localized to chromosomes 10q and 4q, respectively, by analysis of a panel of rodent-human somatic cell hybrids and yeast artificial chromosomes. These studies complete the mapping of the cloned NPY receptor subtypes in human and mouse and, together with previous studies, establish that the genes encoding receptors with high affinity for pancreatic polypeptide are not clustered with the genes encoding receptors specific for neuropeptide Y and peptide YY. The physical association of these receptor genes correlates with ligand-binding properties, rather than sequence identity, and suggests a complex evolutionary relationship.


Subject(s)
Chromosomes, Human , Receptors, Gastrointestinal Hormone/genetics , Receptors, Neuropeptide Y/genetics , Animals , Chromosome Mapping , Humans , Mice , Mice, Inbred C57BL , Mice, Inbred Strains , Multigene Family
17.
Genomics ; 38(3): 392-8, 1996 Dec 15.
Article in English | MEDLINE | ID: mdl-8975716

ABSTRACT

Neuropeptide Y (NPY) signals through a family of G-protein-coupled receptors present in the brain and sympathetic neurons. To further our understanding of the genetic elements involved in the regulation of NPY receptor expression, we have cloned and characterized the human gene encoding the type 2 NPY receptor (Y2 receptor, HGMW-approved symbol NPY2R).2 The transcript spans 9 kb of genomic sequence and is encoded on two exons. As in the type 1 NPY receptor (Y1 receptor) gene, the 5'-untranslated region of the Y2 receptor is interrupted by an intervening sequence ( approximately 4.5 kb). However, the Y2 receptor gene does not contain an intron analogous to that present in the coding region of the Y1 receptor. The predicted transcript size ( approximately 4.5 kb) is consistent with the size observed by Northern analysis. The 381-amino-acid sequence deduced from the open reading frame is identical to that encoded by the cDNA. The Y2 receptor gene maps to human chromosome 4q31, the same region containing the Y1 receptor locus, suggesting that these subtypes may have arisen by gene duplication despite their structural differences.


Subject(s)
Chromosomes, Human, Pair 4/genetics , Receptors, Neuropeptide Y/genetics , Amino Acid Sequence , Animals , Base Sequence , Cattle , Humans , Introns/genetics , Molecular Sequence Data , Multigene Family , Open Reading Frames , Promoter Regions, Genetic , Receptors, Neuropeptide Y/classification , Sequence Homology, Nucleic Acid
18.
J Biol Chem ; 271(31): 18657-61, 1996 Aug 02.
Article in English | MEDLINE | ID: mdl-8702519

ABSTRACT

We have isolated a cDNA from a human placental choriocarcinoma cell cDNA library which, when expressed in HeLa cells, induces a Na+-dependent amino acid transport system with preference for zwitterionic amino acids. Anionic amino acids, cationic amino acids, imino acids, and N-methylated amino acids are excluded by this system. These characteristics are identical to those described for the amino acid transporter Bo. When expressed in Xenopus laevis oocytes that do not have detectable endogenous activity of the amino acid transporter Bo, the cloned transporter increases alanine transport in the oocytes severalfold and induces alanine-evoked inward currents in the presence of Na+. The cDNA codes for a polypeptide containing 541 amino acids with 10 putative transmembrane domains. Amino acid sequence homology predicts this transporter (hATBo) to be a member of a superfamily consisting of the glutamate transporters, the neutral amino acid transport system ASCT, and the insulin-activable neutral/anionic amino acid transporter. Chromosomal assignment studies with somatic cell hybrid analysis and fluorescent in situ hybridization have located the ATBo gene to human chromosome 19q13.3.


Subject(s)
Amino Acid Transport System ASC , Carrier Proteins/genetics , Carrier Proteins/metabolism , Receptors, Virus/genetics , Receptors, Virus/metabolism , Alanine/metabolism , Amino Acid Sequence , Amino Acid Transport Systems , Animals , Base Sequence , Choriocarcinoma/genetics , Choriocarcinoma/metabolism , Chromosome Mapping , Chromosomes, Human, Pair 19/genetics , Cloning, Molecular , DNA, Complementary/genetics , Female , Humans , Minor Histocompatibility Antigens , Molecular Sequence Data , Oocytes/metabolism , Placenta/metabolism , Pregnancy , RNA, Messenger/genetics , RNA, Messenger/metabolism , Sodium/metabolism , Tumor Cells, Cultured , Uterine Neoplasms/genetics , Uterine Neoplasms/metabolism , Xenopus laevis
19.
Prenat Diagn ; 16(2): 169-72, 1996 Feb.
Article in English | MEDLINE | ID: mdl-8650129

ABSTRACT

We present a prenatal case of mosaicism with at least two monosomy cell lines: one with monosomy 21 (45,XY,-21) and one missing the Y (45,X) and a possible third 46,XY in chorionic villus cell culture. Cytogenetic studies were initiated following the ultrasound detection at 11 weeks of a large cystic hygroma and in utero growth retardation. Spontaneous fetal demise occurred at 12 weeks and the pregnancy was terminated. To our knowledge, this is the first report of two different monosomic cell lines found in chorionic villus cells.


Subject(s)
Chorionic Villi Sampling , Monosomy/pathology , Mosaicism/pathology , Adult , Cell Line , Female , Humans , Monosomy/genetics , Mosaicism/genetics , Pregnancy , Pregnancy Outcome
20.
Mutagenesis ; 11(1): 49-56, 1996 Jan.
Article in English | MEDLINE | ID: mdl-8671715

ABSTRACT

Transgenic mice carrying multiple copies of a recoverable lambda phage shuttle vector (lambda supF) were constructed for the purpose of studying mutagenesis in a whole animal. Spontaneous mutations in rescued supF target genes from several different lines of transgenic mice were analyzed. One mouse line, 1139, was identified in which the frequency of spontaneous mutations was unusually high (3.15 x 10(-4)), 20-fold higher than in other transgenic mice carrying a similar number of copies of the lambda transgene (approximately 100). Over 75% of the spontaneous mutations from 1139 mice were found to be deletions, whereas mostly point mutations were recovered from the other mice. In 1139 no significant variation among adult tissues has been detected. However, embryonic tissue yielded a 3- to 4-fold lower frequency of mutations, most of which were point mutations rather than deletions. The frequency of mutations at another locus, the hypoxanthine phosphoribosyl transferase gene, was not elevated in fibroblast lines established in culture from the 1139 mice. Overall, these results suggest that the deletion mutagenesis affecting the transgene sequences in 1139 mice is a locus-specific effect occurring during growth and development. The increased mutagenesis could not be explained by the degree of methylation of the transgene sequences, since hypermethylation was seen in both 1139 mice and other mice with a low frequency of shuttle vector mutations. The integrated lambda vector DNA in 1139 mice was mapped to a single site on chromosome 7, but no mechanism for the mutagenesis was suggested by this localization. It is proposed that the lambda DNA may have either integrated into an unstable genomic site or created a newly unstable locus in the process of integration.


Subject(s)
Mice, Transgenic/genetics , Sequence Deletion , Animals , Bacteriophage lambda/genetics , Base Sequence , Chromosome Mapping , DNA Mutational Analysis , DNA, Recombinant/chemistry , DNA, Recombinant/genetics , Embryo, Mammalian , Genetic Vectors , Methylation , Mice , Molecular Sequence Data , Point Mutation
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