Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).

abstract：:Retinitis pigmentosa (RP) is a heterogeneous genetic disorder with autosomal dominant, autosomal recessive, and X-linked forms. We previously mapped an additional arRP locus to chromosome 6p21 (RP14) in a single extended kinship from the Dominican Republic. Aided by a second linked RP pedigree from the same region of ...

journal_title：Genomics

authors： Banerjee P,Lewis CA,Kleyn PW,Shugart YY,Ross BM,Penchaszadeh GK,Ott J,Jacobson SG,Gilliam TC,Knowles JA

更新日期：1998-03-01 00:00:00

abstract：:DNA N6-methyladenine (6 mA) is an epigenetic modification that plays a vital role in a variety of cellular processes in both eukaryotes and prokaryotes. Accurate information of 6 mA sites in the Rosaceae genome may assist in understanding genomic 6 mA distributions and various biological functions such as epigenetic i...

journal_title：Genomics

authors： Khanal J,Lim DY,Tayara H,Chong KT

更新日期：2020-10-01 00:00:00

abstract：:Dynamins, microtubule-binding GTPases, are encoded by at least three genes in mammals. Two distinct gene-specific cDNAs were used to analyze the segregation of dynamin genes Dnm1 and Dnm2 in a mouse interspecies backcross. The nervous system-expressed gene Dnm1 was localized to Chr 2 between the genes for vimentin and...

journal_title：Genomics

authors： Klocke R,Augustin A,Ronsiek M,Stief A,van der Putten H,Jockusch H

更新日期：1997-04-15 00:00:00

abstract：:Grapsoidea and Ocypodoidea, two of the most abundant and economically important groups in Brachyura, are of great commercial value to fisheries and aquaculture. However, the taxonomy of Ocypodoidea and Grapsoidea has long been highly disputed. Previous studies have investigated this problem through phylogenetic analys...

journal_title：Genomics

authors： Wang Q,Tang D,Guo H,Wang J,Xu X,Wang Z

更新日期：2020-01-01 00:00:00

abstract：:We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Wheeler GN,Parker AE,Buxton RS

更新日期：1991-07-01 00:00:00

abstract：:Thirty-four random DNA probes from the terminal half of the human chromosome 4 short arm were further localized within 4pter----p15.1. A panel of somatic cell hybrid lines defining six chromosomal regions within 4pter----p15.1 was constructed using human cell lines containing translocation or deletion chromosomes. The...

journal_title：Genomics

authors： MacDonald ME,Anderson MA,Gilliam TC,Tranejaerg L,Carpenter NJ,Magenis E,Hayden MR,Healey ST,Bonner TI,Gusella JF

更新日期：1987-09-01 00:00:00

abstract：:Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electrically silent, percussion-induced muscular contractions. We previously reported the localization of a gene for RMD to 1q41-q42 by genome-wide linkage analysis in a large family from Oregon. This RMD gene was initially found to be co...

journal_title：Genomics

authors： Stephan DA,Hoffman EP

更新日期：1999-02-01 00:00:00

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...

journal_title：Genomics

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

更新日期：1994-03-01 00:00:00

abstract：:In Macaca mulatta, the single rDNA array is flanked by a patchwork of sequences including subregions of human Yp11.2, 4q35.2, and 10p15.3. This composite DNA region is characterized by unique or low-copy sequences, resembling a potentially transcribed region. The analysis of Cercopithecus aethiops, Presbytis cristata,...

journal_title：Genomics

authors： Bodega B,Cardone MF,Rocchi M,Meneveri R,Marozzi A,Ginelli E

更新日期：2006-11-01 00:00:00

abstract：:We describe here the cloning and characterization of the human gene ERMAP, identified by subtractive hybridization using early and late gestation human fetal liver. By in situ hybridization, we found human ERMAP to be expressed not only in erythoid cells in fetal liver and adult bone marrow, but also in reticulocytes ...

journal_title：Genomics

authors： Xu H,Foltz L,Sha Y,Madlansacay MR,Cain C,Lindemann G,Vargas J,Nagy D,Harriman B,Mahoney W,Schueler PA

更新日期：2001-08-01 00:00:00

abstract：:We report a comparative map of canine chromosome 1 (CFA1) incorporating single nucleotide polymorphisms (SNPs) and insertion/deletion (indel) polymorphisms, developed by using cross-species primers, radiation hybrid analysis, and pool-and-sequence identification of genetic variations. Fifty-five genes were chosen with...

journal_title：Genomics

authors： Housley DJ,Ritzert E,Venta PJ

更新日期：2004-08-01 00:00:00

abstract：:Paulownia tomentosa is an important foundation forest tree species in semiarid areas. The lack of genetic information hinders research into the mechanisms involved in its response to abiotic stresses. Here, short-read sequencing technology (Illumina) was used to de novo assemble the transcriptome on P. tomentosa. A to...

journal_title：Genomics

authors： Dong Y,Fan G,Deng M,Xu E,Zhao Z

更新日期：2014-10-01 00:00:00

abstract：:It is usually assumed that co-expressed genes suggest co-regulation in the underlying regulatory network. Determining sets of co-expressed genes is an important task, based on some criteria of similarity. This task is usually performed by clustering algorithms, where the genes are clustered into meaningful groups base...

journal_title：Genomics

authors： Pagnuco IA,Pastore JI,Abras G,Brun M,Ballarin VL

更新日期：2017-10-01 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analys...

journal_title：Genomics

authors： Valero MC,de Luis O,Cruces J,Pérez Jurado LA

更新日期：2000-10-01 00:00:00

abstract：:Non-coding RNA is no longer considered to be "junk" DNA, based on evidence uncovered in recent decades. In particular, the important role played by natural antisense transcripts (NATs) in regulating the expression of genes is receiving increasing attention. However, the regulatory mechanisms of NATs remain incompletel...

journal_title：Genomics

authors： Jung J,Lee S,Cho HS,Park K,Ryu JW,Jung M,Kim J,Kim H,Kim DS

更新日期：2019-03-01 00:00:00

abstract：:The X-linked kidney disorder known as Alport syndrome (AS) has been shown to be due to mutations in the gene for an alpha 5 chain of type IV collagen that maps to Xq22-23. Using overlapping cDNA clones that represent approximately 90% of this gene and pulsed-field gel electrophoresis, we have constructed a 2.4-Mb long...

journal_title：Genomics

authors： Vetrie D,Flinter F,Bobrow M,Harris A

更新日期：1992-01-01 00:00:00

abstract：:In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated. Forty-two percent of the breakpoints were located in the intronic sequence containing probe P20, whereas th...

journal_title：Genomics

authors： Gilgenkrantz H,Chelly J,Lambert M,Récan D,Barbot JC,van Ommen GJ,Kaplan JC

更新日期：1989-10-01 00:00:00

abstract：:Eight genes located on the short arm of the human X chromosome (MAOA, SYN1, OAT, OTC, CYBB, DMD, ZFX, POLA) have been mapped in several marsupial species by cell hybrid analysis and/or in situ hybridization using probes derived from human cDNA. Seven appear to be autosomal in all marsupial species examined. The eighth...

journal_title：Genomics

authors： Spencer JA,Sinclair AH,Watson JM,Graves JA

更新日期：1991-10-01 00:00:00

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...

journal_title：Genomics

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

更新日期：1996-01-15 00:00:00

abstract：:Aminoacylase-1 (ACY1, EC 3.5.1.14) is a cytosolic enzyme with a wide range of tissue expression and has been postulated to function in the catabolism and salvage of acylated amino acids. ACY1 has been assigned to chromosome 3p21, a region reduced to homozygosity in small-cell lung cancer and renal cell carcinoma, and ...

journal_title：Genomics

authors： Miller YE,Drabkin H,Jones C,Fisher JH

更新日期：1990-09-01 00:00:00

abstract：:In this report we define the genes of two-component regulatory systems in rice through a comprehensive computational analysis of rice (Oryza sativa L.) genome sequence databases. Thirty-seven genes were identified, including 5 HKs (cytokinin-response histidine protein kinase) (OsHK1-4, OsHKL1), 5 HPs (histidine phosph...

journal_title：Genomics

authors： Du L,Jiao F,Chu J,Jin G,Chen M,Wu P

更新日期：2007-06-01 00:00:00

abstract：:Using an interspecies backcross, we have mapped the HOX-5 and surfeit (surf) gene clusters within the proximal portion of mouse chromosome 2. While the HOX-5 cluster of homeobox-containing genes has been localized to chromosome 2, bands C3-E1, by in situ hybridization, its more precise position relative to the genes a...

journal_title：Genomics

authors： Stubbs L,Huxley C,Hogan B,Evans T,Fried M,Duboule D,Lehrach H

更新日期：1990-04-01 00:00:00

abstract：:By searching the Expressed Sequence Tag database, a full-length cDNA for a novel human CC chemokine was cloned. This cDNA encoded a 94-amino-acid protein with a putative signal peptide of 26 amino acids. The deduced mature protein had the four conserved cysteine residues characteristic of CC chemokines and showed 44% ...

journal_title：Genomics

authors： Guo RF,Ward PA,Hu SM,McDuffie JE,Huber-Lang M,Shi MM

更新日期：1999-06-15 00:00:00

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...

journal_title：Genomics

authors： Cheung VG,Nelson SF

更新日期：1998-01-01 00:00:00

abstract：:Mice carrying the autosomal recessive rd gene experience total degeneration of the photoreceptor cells of the retina by 3 to 4 weeks of life. Biochemical studies of the rd retina have demonstrated a lesion in cyclic guanosine monophosphate (cGMP) metabolism due to depressed rod-specific cGMP-phosphodiesterase (cGMP-PD...

journal_title：Genomics

authors： Danciger M,Kozak CA,Farber DB

更新日期：1989-02-01 00:00:00

abstract：:Estrogen receptor-like 1a (ESRL1a; same as estrogen receptor-related orphan receptors, ERR1) belongs to a subfamily of the nuclear receptor superfamily. We have previously shown that human ESRL1a modulates estrogen responsiveness of the lactoferrin gene promoter in transiently transfected endometrial carcinoma RL95-2 ...

journal_title：Genomics

authors： Shi H,Shigeta H,Yang N,Fu K,O'Brian G,Teng CT

更新日期：1997-08-15 00:00:00

abstract：:We report for the first time the fragmented mitochondrial (mt) genomes of two Pedicinus species: Pedicinus obtusus and Pedicinus badii, and compared them with the lice of humans and chimpanzees. Despite being congeneric, the two monkey lice are distinct from each other in mt karyotype. The variation in mt karyotype be...

journal_title：Genomics

authors： Fu YT,Dong Y,Wang W,Nie Y,Liu GH,Shao R

更新日期：2020-11-01 00:00:00

abstract：:The presence of an extra copy of human chromosome 21 (trisomy 21), especially region 21q22.2, causes many phenotypes in Down syndrome, including mental retardation. To study genes potentially responsible for some of these phenotypes, we cloned a human candidate gene (DYRK) from 21q22.2 and its murine counterpart (Dyrk...

journal_title：Genomics

authors： Song WJ,Sternberg LR,Kasten-Sportès C,Keuren ML,Chung SH,Slack AC,Miller DE,Glover TW,Chiang PW,Lou L,Kurnit DM

更新日期：1996-12-15 00:00:00

abstract：:Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1, we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that enco...

journal_title：Genomics

authors： Acierno JS Jr,Kennedy JC,Falardeau JL,Leyne M,Bromley MC,Colman MW,Sun M,Bove C,Ashworth LK,Chadwick LH,Schiripo T,Ma S,Goldin E,Schiffmann R,Slaugenhaupt SA

更新日期：2001-04-15 00:00:00

abstract：:Unbalanced chromosome translocations with breakpoints around 8p12, resulting in loss of distal 8p, are common in carcinomas. We have mapped the 8p12 breakpoints in three breast cancer cell lines, T-47D, MDA-MB-361, and ZR-75-1, using YACs and PACs between D8S540 and D8S255 by fluorescence in situ hybridization. All th...

journal_title：Genomics

authors： Courtay-Cahen C,Morris JS,Edwards PA

更新日期：2000-05-15 00:00:00