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T L Yang-Feng

Publications and source records attributed to T L Yang-Feng.

At least 37 records · Page 2Linked to original sources
PubMed1995

Assignment of the human folate transporter gene to chromosome 21q22.3 by somatic cell hybrid analysis and in situ hybridization.

We have used the human folate transporter cDNA and a human genomic clone hybridizing to the cDNA to perform chromosomal mapping of the folate transporter gene. Human-rodent somatic cell hybrid analysis using the cDNA as the probe revealed perfect segregation with human chromosome 21. In situ hybridization of the cDNA probe to human metaphase chromosome spreads mapped the folate transporter gene to the distal long arm of chromosome 21, band q22.3. This chromosomal location was confirmed by fluorescence in situ hybridization using the genomic clone.

Animals↗
PubMed1995

Human intestinal H+/peptide cotransporter. Cloning, functional expression, and chromosomal localization.

In mammalian small intestine, a H(+)-coupled peptide transporter is responsible for the absorption of small peptides arising from digestion of dietary proteins. Recently a cDNA clone encoding a H+/peptide cotransporter has been isolated from a rabbit intestinal cDNA library (Fei, Y.J., Kanai, Y., Nussberger, S., Ganapathy, V., Leibach, F.H., Romero, M.F., Singh, S.K., Boron, W. F., and Hediger, M. A. (1994) Nature 368, 563-566). Screening of a human intestinal cDNA library with a probe derived from the rabbit H+/peptide cotransporter cDNA resulted in the identification of a cDNA which when expressed in HeLa cells or in Xenopus laevis oocytes induced H(+)-dependent peptide transport activity. The predicted protein consists of 708 amino acids with 12 membrane-spanning domains and two putative sites for protein kinase C-dependent phosphorylation. The cDNA-induced transport process accepts dipeptides, tripeptides, and amino beta-lactam antibiotics but not free amino acids as substrates. The human H+/peptide cotransporter exhibits a high degree of homology (81% identity and 92% similarity) to the rabbit H+/peptide cotransporter. But surprisingly these transporters show only a weak homology to the H(+)-coupled peptide transport proteins present in bacteria and yeast. Chromosomal assignment studies with somatic cell hybrid analysis and in situ hybridization have located the gene encoding the cloned human H+/peptide cotransporter to chromosome 13 q33-->q34.

Amino Acid Sequence↗
PubMed1995

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

The following is a summary of presentations given during an ancillary meeting to the 1993 American Society of Human Genetics Meeting in New Orleans, LA. This ancillary meeting, entitled "Recent Research on Chromosome 4p Syndromes and Genes," reviewed the history of the Wolf-Hirschhorn syndrome (WHS), the natural history of patients with WHS, and the smallest region of deletion associated with the WHS. The proximal 4p deletion syndrome and the duplication 4p syndrome were also described and advice was offered regarding detection of chromosome 4p deletions, duplications, and rearrangements. The current status of the physical map of chromosome 4p with emphasis on the genes that map to the 4p16 region was presented along with a preliminary phenotypic map of 4p16. The goal of this format was to provide a comprehensive review of the clinical presentations, diagnostic capabilities, and genetic mapping advances involving chromosome 4p.

Abnormalities, Multiple↗
PubMed1995

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.

We describe a newborn boy with multiple anomalies, including bilateral split foot and an interstitial deletion of chromosome 2 (q24.2-q31.1). Four additional cases in 2 families involving similar deletions have been reported. Bilateral digital anomalies of hands and feet were seen in all 5 cases, including a wide cleft between the first and second toes, wide halluces, brachysyndactyly of the toes, and camptodactyly of the fingers. Other common manifestations have included postnatal growth and mental retardation, microcephaly, down-slanting palpebral fissures, micrognathia, and apparently low-set ears. Bilateral digital anomalies were reported in 22 of 24 cases with deletions including at least part of region 2q24-q31. Digital anomalies were not prevalent in 18 patients with deletions of chromosome 2q not overlapping 2q24-q31. 2q31.1 appears to be the common deleted segment in all cases with significant digital anomalies, which implies the existence of one or more genes involved in distal limb morphogenesis in this region. HOXD13 and EVX2, located in the proximity of 2q31, were not deleted in our patient by Southern analysis. Bilateral digital malformations of the hands and feet associated with other anomalies should be evaluated by chromosome analysis focused at the 2q24-q31 region.

Abnormalities, Multiple↗
PubMed1995

A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation.

A satellited long arm of the Y chromosome (Yqs) is considered a normal variation, whereas the presence of a satellite on the short arm of the Y (Yps) has never been described in the literature. A Yps chromosome could be clinically significant if the translocation resulting in Yps has relocated the testis-determining gene, SRY, to another chromosome. A carrier of such a translocation would therefore be at increased risk for having XX male and XY female offspring. Here we describe the first reported case of de novo Yps present in a phenotypically normal male. This Yps chromosome was positive for C-banding and nucleolus organizer region (NOR) staining and showed a hybridization signal for the beta-satellite sequence. Fluorescence in situ hybridization (FISH) analysis indicated that SRY was retained on the Yps and the translocation breakpoint on Yps was distal to the pseudoautosomal region. At prenatal diagnosis, a normal appearing Y chromosome was found in his son, and thus the satellite on Yps was lost during meiotic Xp-Yp pairing. This Yps chromosome was likely the product of an "unstable" translocation.

Adult↗
PubMed1995

Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13.

A polymorphic CA repeat (locus name DXS1178) was isolated from a 1-megabase YAC (OTCC) containing the OTC gene, located at Xp21.1. However, amplification in human-rodent hybrid cells and segregation analysis in three CEPH families mapped the DXS1178 locus at Xq13. The mapping ambiguity is apparently caused by the chimeric nature of the OTCC YAC clone.

Alleles↗
PubMed1995

Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.

The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific. In our efforts toward understanding the specialized functions and development of the RPE, and the origins of inherited retinal degenerations, we have characterized the human gene encoding the 61 kDa protein. This is the first structural characterization of a gene transcribed specifically in the RPE. The gene maps to human chromosome 1p31. The sequence encoding the transcript spans over 20 kb, and is interrupted by 13 introns. A putative transcription start site lies 54 bp upstream of the initiation codon. A single transcript of approximately 2.9 kb is present in human RPE, and is not detected in other tissues. The deduced 533 amino acid sequence of the human protein is 98.7% identical to the bovine, but shows no significant similarity to any other entry in the databases. Expression of the 61 kDa protein appears to depend on the presence of environmental cues, since the corresponding transcripts are rapidly lost from RPE cells established in culture. Down regulation may occur post-transcriptionally, since AU-rich elements proposed to target RNA for rapid degradation are present throughout the 3'-untranslated region. The tissue-specific expression, high abundance, evolutionary conservation, developmental regulation, and sequence of the 3'-untranslated region suggest that the 61 kDa protein is the product of a functionally important gene whose expression is tightly regulated.

Amino Acid Sequence↗
PubMed1995

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.

A point mutation (1898 + 5G-->T) located five base pairs downstream from the donor splice site in intron 12 of the CFTR gene has been identified in a consanguineous CF patient of Chinese origin. To determine if this nucleotide substitution could affect mRNA splicing, PCR analysis was performed with RNA isolated from the lymphoblastoid cell line of the mother of the deceased patient. While exon 12-minus transcript was detected in this sample, it was also found in individuals without 1898 + 5G-->T, albeit in a smaller proportion. Using a sequence polymorphism associated with each of the two alleles in the mother, however, we showed that mutant transcript was almost exclusively produced by the 1898 + 5G-->T allele. Skipping of exon 12 would result in the deletion of 29 amino acids from the first nucleotide binding domain of CFTR, rendering the protein non-functional. The possibility of a low level (< or = 2.5%) of normal transcript from the mutant allele cannot be excluded and it may explain the pancreatic sufficient phenotype of the patient. The 1898 + 5G-->T mutation was found in two other CF patients of Chinese origin, but it was not detected in 192 CF chromosomes of Caucasian origin and 30 other chromosomes from Chinese individuals without a family history of CF.

Base Sequence↗
PubMed1995

Allelic deletion mapping of putative tumor suppressor genes on 17q in sporadic ovarian cancer.

OBJECTIVES: 1) To study whether the same or different chromosome 17q genes may be involved in the oncogenesis of familial and sporadic ovarian malignancies. 2) To localize the candidate gene in the sporadic ovarian cancers. METHODS (STUDY DESIGN): Using DNA extracted from ovarian tumors and corresponding peripheral leukocyte, we examined the status of loss of heterozygosity (LOH) at 12 loci spanning chromosome 17q12-q25 by Southern hybridization and polymerase chain reaction. RESULTS: Comparison of the extent of LOH among 25 epithelial ovarian tumors showing allele loss at one or more loci on 17q, the smallest overlapping region of allelic deletion is between D17S579 and GIP, with a genetic distance of approximate 2 cM. CONCLUSIONS: From our allelic deletion analysis of chromosome 17q loci, it indicates that there are more than one ovarian cancer candidate genes on chromosome 17q.

Alleles↗
PubMed1995

Characterization of a novel 350-kilodalton nuclear phosphoprotein that is specifically involved in mitotic-phase progression.

A gene assigned to human chromosome 1q32-41 encodes a novel protein of 3,113 amino acids containing an internal tandem repeat of 177 amino acids. The protein, which we have named "mitosin," was identified by direct binding to purified retinoblastoma protein in vitro with a region distantly related to the retinoblastoma protein-binding site of E2F-1. Mitosin is expressed throughout S, G2, and M phases of the cell cycle but is absent in G1. Its localization is dramatically reorganized from a rather homogeneous nuclear distribution in S phase to paired dots at the kinetochore/centromere region, to the spindle apparatus, and then to the midbody during M-phase progression. This spatial reorganization coincides closely with the temporal phosphorylation patterns of mitosin. Overexpression of N-terminally truncated mutants blocks cell cycle progression mainly at G2/M. These results suggest that mitosin may play an important role in mitotic-phase progression.

Amino Acid Sequence↗
PubMed1995

Expression and chromosomal localization of cDNA clones from an enriched human retinal pigment epithelial (RPE) cell line library: identification of two RPE-specific genes.

We have previously constructed an enriched cDNA library from a human retinal pigment epithelium (RPE) cell line and generated expressed sequence tags (ESTs) from novel clones. Here, we report the analysis of expression of 14 cDNAs and identify two clones, AA1 and AA28, that appear to be specifically expressed in RPE but not in any other tissue tested. We have also localized 15 novel cDNAs (including the two RPE-specific cDNAs) to human chromosomes using in situ hybridization or in conjunction with somatic cell hybrid analysis. The cDNAs were mapped to the following chromosomal regions: 1p35-->p33, 1q41-->q42 (two clones), 3q11.2-->q13.1, 3q24-->q25, 4q13-->q21, 6q22-->q23, 7q34-->q36, 10q23-->q24, 11q23-->q24, 15q25-->q26, 19p13.3, 20p13, 21q11.2-->q21, and 21q22.2-->q22.3. The genetic and functional analysis of the two RPE-specific genes should contribute to a better understanding of RPE function. Chromosomal localization of RPE cDNAs will be valuable in identifying candidate genes for inherited diseases involving RPE dysfunction and aid in establishing the expression map of the human genome.

Blotting, Northern↗
PubMed1995

Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes.

L-Proline fulfills several of the classic criteria used to identify amino acid neurotransmitters, including the presence of a high affinity, Na(+)- (and Cl-)-dependent synaptosomal transport process and the Ca(2+)-dependent release of exogenously loaded radiolabeled L-proline from brain slices and synaptosomes after K(+)-induced depolarization. However, studies to define the role of L-proline in discrete pathways in the mammalian brain have been precluded by the inability to block its biosynthesis or high affinity transport in nervous tissue. We report the molecular cloning, functional expression, and chromosomal localization of a human brain-specific high affinity L-proline transporter (hPROT). The pharmacological specificity, kinetic properties, and ionic requirements of hPROT clearly distinguish this carrier from the other Na(+)-dependent plasma membrane carriers that transport L-proline. Multiple tissue Northern blot analysis revealed a prominent approximately 4-kb mRNA transcript in human brain tissue, whereas no specific hybridizing species were detected in peripheral tissue. An antipeptide antiserum directed against the carboxy-terminus of the predicted hPROT protein identified a single, broad immunoreactive protein of 68 kDa on immunoblots of synaptosomal membranes from various human brain regions. In contrast, no specific labeling was detected on immunoblots of membranes from human liver, kidney, or heart. A differential distribution of hPROT mRNA and protein was observed in the human corpus striatum, consistent with the hypothesis that the hPROT protein is synthesized in neuronal cell bodies in an extrastriatal location and axonally transported to the corpus striatum. These findings warrant the consideration of a synaptic regulatory role for this transporter and its presumed natural substrate, L-proline, in the mammalian central nervous system.

Adult↗
PubMed1994

FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype.

An infant girl with manifestations resembling Optiz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly.

Abnormalities, Multiple↗
PubMed1994

Re-examination of the McCoy cell line for confirmation of its mouse origin: karyotyping, electron microscopy and reverse transcriptase assay for endogenous retrovirus.

BACKGROUND: The McCoy cell line originally derived from human synovial fluid in 1955, has been later found useful for cultivation of Chlamydia trachomatis. This cell line has been subcultured and exchanged between laboratories for many years. In recent years, the McCoy cell line has been widely used in many clinical diagnostic laboratories and has been supplied through commercial companies for the isolation and identification of Chlamydia trachomatis from clinical specimens. OBJECTIVES: Since retrovirus-like particles have been observed in McCoy cells and the species of origin of the currently used cell line has not been adequately documented, further characterization of McCoy cell line obtained from commercial sources was carried out. STUDY DESIGN: This study includes karyotypes analysis using G-banding for the confirmation of species origin of McCoy cells, electron microscopy for examination of virus particles associated with the cells and biochemical assay for reverse transcriptase activity for detection of retrovirus. RESULTS: Our results showed by karyotype analysis that McCoy cells are of mouse origin. Electron microscopic examination revealed the presence of endogenous retrovirus type-A and type-C virions. Biochemical assays of culture supernatant fluids from McCoy cells detected reverse transcriptase activity which required Mg(2+) ions. CONCLUSIONS: The present study has confirmed that McCoy cells currently used by many laboratories are mouse cells, not the original McCoy cells derived from human cells. Laboratory workers should be aware of the presence of endogenous murine retrovirus in this cell line and appropriate precautions should be taken.

Journal Article↗
PubMed1994

Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6.

We previously described sequence tags from 58 novel directionally cloned human cDNAs from an enriched retinal pigment epithelial cell line library (Gieser and Swaroop, 1992). The nucleotide sequence of one of the cDNA clones, AA35 (D3S1231E), showed strong homology to the yeast SEC13 gene, required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. We have designated the human gene SEC13R (SEC13-Related). The amino acid sequence of the SEC13R gene product shows 70% similarity to yeast Sec13p, suggesting that SEC13R may be the human homolog of SEC13. The deduced polypeptide sequence contains several beta-transducin like 'WD40' repeats, and is rich in serine and threonine residues. The 1.4 kb transcript of SEC13R is detected by Northern analysis in many human tissues. However, RT-PCR analysis using two primer sets from different regions of the gene suggests differential expression of alternately spliced transcripts in various tissues. Somatic cell hybrid and in situ hybridization studies localized the SEC13R gene to human chromosome 3p24-p25. A related sequence was mapped to chromosome 18q11.2-q12. SEC13R was physically mapped to a yeast artificial chromosome (YAC) clone spanning the D3S720 marker from the region of the Von Hippel-Lindau disease locus. The mouse Sec13r gene was mapped to the conserved linkage group on chromosome 6 that corresponds to human chromosome 3p24-p25.

Amino Acid Sequence↗