Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.


:A NotI linking library constructed from flow-sorted human chromosome 17 material was screened to aid in construction of a long-range restriction map of the Miller-Dieker chromosome region (MDCR) in 17p13.3. A total of 66 clones were mapped to one of eight regions of chromosome 17 using a somatic cell hybrid panel, and 44/66 (67%) of these clones cross-hybridized to rodent DNA on Southern blots. Of these, 24 clones were tested and all mapped to mouse chromosome 11, the homolog of human chromosome 17. Four linking clones mapped to 17p13.3 and were used for pulsed-field gel electrophoresis studies along with six other anonymous probes previously mapped to this region. Clone L132 was found to be deleted in all Miller-Dieker patients tested (n = 15) and therefore lies within the critical region for this disorder. It detects two NotI fragments (180 and 320 kb), one of which (320 kb) was shared by YNZ22 and YNH37, two probes previously shown to be co-deleted in all patients with the Miller-Dieker syndrome (MDS). These results indicate that all MDS patients share a minimum deletion region of greater than 370 kb. Two other NotI clones, L53 and L125, mapped telomeric to the MDS critical region and share a 600-kb MluI fragment with each other and with YNZ22/YNH37. This provides a 930-kb MluI map that encompasses the distal boundary of the MDS critical region but does not include the proximal boundary. A total of over 2 Mbp is represented in the MluI fragments by probes in subband p13.3, a cytogenetic region estimated to be 3-4 Mbp.






Ledbetter SA,Wallace MR,Collins FS,Ledbetter DH




Has Abstract


1990-06-01 00:00:00














  • Refinement of the DNA marker maps of mouse chromosome 12.

    abstract::To refine the linkage map of mouse Chromosome (Chr) 12 and to define better the homology relationships between it and human chrs 2p and 14q, nine new anonymous DNA markers of Chr 12 were identified, and mouse loci homologous to the human D14S17, CHGA, HSPA2, RRM2, TPO, and ZFP50 ("KUP") genes were defined. The inherit...


    pub_type: 杂志文章


    authors: Khan F,Clarke V,D'Eustachio P

    更新日期:1994-05-01 00:00:00

  • Rapid restriction mapping of cosmids by sequence-specific triple-helix-mediated affinity capture.

    abstract::A simple and rapid strategy for restriction mapping based on sequence-specific triple-helix affinity capture (TAC) was developed. The strategy was applied to the analysis of cosmid clones by the construction of a new cosmid vector, ScosTriplex-II, containing two different triple-helix-forming sequences flanking the cl...


    pub_type: 杂志文章


    authors: Ji H,Francisco T,Smith LM,Guilfoyle RA

    更新日期:1996-01-15 00:00:00

  • Linkage relations between A2M, HOX3, INT1, KRAS2, and PAH on bovine chromosome 5.

    abstract::There is a high level of conservation between human chromosomes and bovine syntenic groups. One such comparison is between human chromosome 12 and bovine chromosome 5, where at least 16 loci have been shown to be conserved in an homologous segment. However, the degree of conservation of order of the loci on bovine chr...


    pub_type: 杂志文章


    authors: Barendse W,Armitage SM,Womack JE,Hetzel J

    更新日期:1992-09-01 00:00:00

  • Sensitivity and selectivity in protein similarity searches: a comparison of Smith-Waterman in hardware to BLAST and FASTA.

    abstract::To predict the functions of a possible protein product of any new or uncharacterized DNA sequence, it is important first to detect all significant similarities between the encoded amino acid sequence and any accumulated protein sequence data. We have implemented a set of queries and database sequences and proceeded to...


    pub_type: 杂志文章


    authors: Shpaer EG,Robinson M,Yee D,Candlin JD,Mines R,Hunkapiller T

    更新日期:1996-12-01 00:00:00

  • Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

    abstract::Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron/exon organization, thought to reflect common ancestry and evolutionary pressures at the protein level. We report here the complete intron/exon organization of COL5A1, the human gene that encode...


    pub_type: 杂志文章


    authors: Takahara K,Hoffman GG,Greenspan DS

    更新日期:1995-10-10 00:00:00

  • Sequence-tagged NotI sites of human chromosome 21: sequence analysis and mapping.

    abstract::We isolated and analyzed 19 NotI site-containing clones specific for human chromosome 21. The overall process consisted of selective isolation of NotI site-containing clones from flow-sorted chromosome 21 libraries, selection of independent clones by their restriction patterns and nucleotide sequences, and assignment ...


    pub_type: 杂志文章


    authors: Hattori M,Toyoda A,Ichikawa H,Ito T,Ohgusu H,Oishi N,Kano T,Kuhara S,Ohki M,Sakaki Y

    更新日期:1993-07-01 00:00:00

  • Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene.

    abstract::The gene encoding human carboxyl ester lipase (CEL), including 1628 bp of the 5'-flanking region, has been isolated and characterized from two overlapping lambda phage clones. The gene spans 9832 bp and contains 11 exons interrupted by 10 introns. The exons range in size from 88 to 204 bp, except for the last exon, wh...


    pub_type: 杂志文章


    authors: Lidberg U,Nilsson J,Strömberg K,Stenman G,Sahlin P,Enerbäck S,Bjursell G

    更新日期:1992-07-01 00:00:00

  • Dinucleotide repeat loci contribute highly informative genetic markers to the human chromosome 2 linkage map.

    abstract::Microsatellite repeat loci can provide informative markers for genetic linkage. Currently, the human chromosome 2 genetic linkage map has very few highly polymorphic markers. Being such a large chromosome, it will require a large number of informative markers for the dense coverage desired to allow disease genes to be...


    pub_type: 杂志文章


    authors: Todd S,Sherman SL,Naylor SL

    更新日期:1993-06-01 00:00:00

  • Predicting human disease-associated circRNAs based on locality-constrained linear coding.

    abstract::Circular RNAs (circRNAs) are a new kind of endogenous non-coding RNAs, which have been discovered continuously. More and more studies have shown that circRNAs are related to the occurrence and development of human diseases. Identification of circRNAs associated with diseases can contribute to understand the pathogenes...


    pub_type: 杂志文章


    authors: Ge E,Yang Y,Gang M,Fan C,Zhao Q

    更新日期:2020-03-01 00:00:00

  • Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers.

    abstract::The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the human genome and their high degree of polymorphism. Fluorescence-based detection of the STRP pattern with an automated DNA sequencer has improved the efficiency ...


    pub_type: 杂志文章


    authors: Oetting WS,Lee HK,Flanders DJ,Wiesner GL,Sellers TA,King RA

    更新日期:1995-12-10 00:00:00

  • Molecular cloning, genomic organization, and chromosomal localization of the human pancreatitis-associated protein (PAP) gene.

    abstract::Pancreatitis-associated protein (PAP) is a secretory pancreatic protein present in small amounts in normal pancreas and overexpressed during the acute phase of the pancreatitis. In this paper, we describe the cloning, characterization, and chromosomal mapping of the human PAP gene. The gene spans 2748 bp and contains ...


    pub_type: 杂志文章


    authors: Dusetti NJ,Frigerio JM,Fox MF,Swallow DM,Dagorn JC,Iovanna JL

    更新日期:1994-01-01 00:00:00

  • The gene for human glutaredoxin (GLRX) is localized to human chromosome 5q14.

    abstract::Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...


    pub_type: 杂志文章


    authors: Padilla CA,Bajalica S,Lagercrantz J,Holmgren A

    更新日期:1996-03-15 00:00:00

  • Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.

    abstract::The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenes...


    pub_type: 杂志文章


    authors: Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

    更新日期:1997-05-15 00:00:00

  • Genomic mismatch scanning identifies human genomic DNA shared identical by descent.

    abstract::Genomic mismatch scanning (GMS) is a high-throughput, high-resolution identity by descent mapping technique that enriches for genomic DNA fragments that are shared between related individuals. In GMS, DNA heteroduplexes are formed from restriction-digested genomic DNA fragments from two relatives. Mismatch-free DNA he...


    pub_type: 杂志文章


    authors: Cheung VG,Nelson SF

    更新日期:1998-01-01 00:00:00

  • A physical map at 1p31 encompassing the acute insulin response locus and the leptin receptor.

    abstract::Recently, we reported genetic linkage in Pima Indians between the acute insulin response to an intravenous glucose challenge and the short tandem repeat marker D1S198, indicative of a genetic element in this region that controls the phenotypic variation in the first phase of insulin secretion. As a first step to isola...


    pub_type: 杂志文章


    authors: Thompson DB,Sutherland J,Apel W,Ossowski V

    更新日期:1997-01-15 00:00:00

  • Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.

    abstract::The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...


    pub_type: 杂志文章


    authors: Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

    更新日期:1989-04-01 00:00:00

  • Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster.

    abstract::Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...


    pub_type: 杂志文章


    authors: Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

    更新日期:1993-08-01 00:00:00

  • The 2p21 deletion syndrome: characterization of the transcription content.

    abstract::The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...


    pub_type: 杂志文章


    authors: Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

    更新日期:2005-08-01 00:00:00

  • Genomic structure and chromosomal localization of the mouse LIM domain-binding protein 1 gene, Ldb1.

    abstract::The LIM domain is a structural motif that is well conserved throughout evolution in a variety of factors known to play important roles in development and cell regulation. Ldb genes encode LIM domain-binding (Ldb) factors. Here we report on the structural organization and chromosomal localization of the mouse Ldb1 gene...


    pub_type: 杂志文章


    authors: Yamashita T,Agulnick AD,Copeland NG,Gilbert DJ,Jenkins NA,Westphal H

    更新日期:1998-02-15 00:00:00

  • Plant-pathogen interactions: MicroRNA-mediated trans-kingdom gene regulation in fungi and their host plants.

    abstract::MicroRNAs (miRNAs) have been prevalently studied in plants, animals, and viruses. However, recent studies show evidences of miRNA-like RNAs (milRNAs) in fungi as well. It is known that after successful infection, pathogens hijack the host machinery and use it for their own growth and multiplication. Alternatively, res...


    pub_type: 杂志文章


    authors: Mathur M,Nair A,Kadoo N

    更新日期:2020-09-01 00:00:00

  • Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.

    abstract::Uroporphyrinogen-III synthase (URO-S; EC, the fourth enzyme in the heme biosynthetic pathway, is responsible for the conversion of hydroxymethylbilane to the cyclic tetrapyrrole, uroporphyrinogen III. The deficient activity of URO-S is the enzymatic defect in congenital erythropoietic porphyria (CEP), an aut...


    pub_type: 杂志文章


    authors: Xu W,Kozak CA,Desnick RJ

    更新日期:1995-04-10 00:00:00

  • The generation of a library of PCR-analyzed microsatellite variants for genetic mapping of the mouse genome.

    abstract::Forty-three sequences containing simple sequence repeats or microsatellites were generated from an M13 library of total genomic mouse DNA. These sequences were analyzed for size variation using the polymerase chain reaction and gel electrophoresis without the need for radiolabeling. Seventy-two percent of the sequence...


    pub_type: 杂志文章


    authors: Cornall RJ,Aitman TJ,Hearne CM,Todd JA

    更新日期:1991-08-01 00:00:00

  • Linkage mapping around the ragged (Ra) and wasted (wst) loci on distal mouse chromosome 2.

    abstract::Mice that are heterozygous for the ragged (Ra) mutation, which is semidominant, have ragged coats caused by an absence of certain hair types. Ra/Ra homozygous mice usually die soon after birth, are naked, and have edema. Mice that are homozygous for the recessive mutation wasted (wst) appear normal until soon after we...


    pub_type: 杂志文章


    authors: Abbott C,Malas S,Pilz A,Pate L,Ali R,Peters J

    更新日期:1994-03-01 00:00:00

  • Chromosomal mapping of Tmp (Emp1), Xmp (Emp2), and Ymp (Emp3), genes encoding membrane proteins related to Pmp22.

    abstract::We have recently characterized a novel mammalian gene family, encoding membrane glycoproteins with four trans-membrane domains. This gene family includes the previously studied PMP22, which is involved in the Charcot-Marie-Tooth neuropathy, and three novel genes: TMP, XMP, and YMP (HGMW-approved symbols EMP1, EMP2 and...


    pub_type: 杂志文章


    authors: Ben-Porath I,Kozak CA,Benvenisty N

    更新日期:1998-05-01 00:00:00

  • A genetic map of mouse chromosome 1 near the Lsh-Ity-Bcg disease resistance locus.

    abstract::Isozyme and restriction fragment length polymorphism (RFLP) analyses of backcross progeny, recombinant inbred strains, and congenic strains of mice positioned eight genetic markers with respect to the Lsh-Ity-Bcg disease resistance locus. Allelic isoforms of Idh-1 and Pep-3 and RFLPs detected by Southern hybridization...


    pub_type: 杂志文章


    authors: Mock B,Krall M,Blackwell J,O'Brien A,Schurr E,Gros P,Skamene E,Potter M

    更新日期:1990-05-01 00:00:00

  • Localization of three novel hybrid breakpoints and refinement of 18 marker assignments in the human 3cen-p21.1 region.

    abstract::Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...


    pub_type: 杂志文章


    authors: Wang ND,Testa JR,Smith DI

    更新日期:1992-12-01 00:00:00

  • Imprinted control regions include composite DNA elements consisting of the ZFP57 binding site overlapping MLL1 morphemes.

    abstract::Mammalian genomes include DNA segments that are imprinted (CpG-methylated) only on one of the two parental chromosomes, leading to parent-of-origin-specific gene expression. The process is regulated by Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs). Previously, ZFP57 was shown...


    pub_type: 杂志文章


    authors: Bina M

    更新日期:2017-07-01 00:00:00

  • A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

    abstract::Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that...


    pub_type: 杂志文章


    authors: Spitz F,Montavon T,Monso-Hinard C,Morris M,Ventruto ML,Antonarakis S,Ventruto V,Duboule D

    更新日期:2002-04-01 00:00:00

  • Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.

    abstract::The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...


    pub_type: 杂志文章


    authors: Welch HM,Darby JK,Pilz AJ,Ko CM,Carritt B

    更新日期:1989-10-01 00:00:00

  • Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1.

    abstract::The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to t...


    pub_type: 杂志文章


    authors: Rojas K,Serrano de la Peña L,Gallardo T,Simmons A,Nyce K,McGrath R,Considine E,Vasko AJ,Peterson E,Grady D,Cox R,Andrew LJ,Lovett M,Overhauser J,Williams CJ

    更新日期:1999-12-01 00:00:00