A novel human gene (SARM) at chromosome 17q11 encodes a protein with a SAM motif and structural similarity to Armadillo/beta-catenin that is conserved in mouse, Drosophila, and Caenorhabditis elegans.

abstract：:Mutations in the mouse dreher (dr) gene cause skeletal defects, hyperactivity, abnormal gait, deafness, white belly spotting, and hypoplasia of Müllerian duct derivatives. To map dr to high resolution, we utilized two crosses. Initially, we analyzed an intersubspecific intercross to construct a detailed genetic map of...

journal_title：Genomics

authors： Bergstrom DE,Gagnon LH,Eicher EM

更新日期：1999-08-01 00:00:00

abstract：:Evi9, a common site of retroviral integration in BXH2 murine myeloid leukemias, encodes a C2H2 zinc finger protein and is overexpressed in these leukemic cells. To investigate a possible role of EVI9 in the human hematopoietic system, we isolated the cDNA clone of the human homologue. Human EVI9, located on the chromo...

journal_title：Genomics

authors： Saiki Y,Yamazaki Y,Yoshida M,Katoh O,Nakamura T

更新日期：2000-12-15 00:00:00

abstract：:The ADH7 gene encoding human Class IV (sigma) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the other ADH genes (ADH1 to ADH5). The nucleotide sequences of the ex...

journal_title：Genomics

authors： Yokoyama H,Baraona E,Lieber CS

更新日期：1996-01-15 00:00:00

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 ...

journal_title：Genomics

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

abstract：:Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis ...

journal_title：Genomics

authors： van der Zwaag B,Burbach JP,Scharfe C,Oefner PJ,Brunner HG,Padberg GW,van Bokhoven H

更新日期：2005-07-01 00:00:00

abstract：:The NFAR gene (nuclear factor associated with dsRNA) encodes a putative transcription-associated factor that we have shown is a substrate for the interferon-inducible, dsRNA-dependent protein kinase, PKR. However, our protein expression analysis has revealed that NFAR exists as two major protein species of 90 kDa (NFA...

journal_title：Genomics

authors： Saunders LR,Jurecic V,Barber GN

更新日期：2001-01-15 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：:Parasites of the genus Plasmodium infect a wide array of hosts, causing malaria in all major groups of terrestrial vertebrates including primates, reptiles, and birds. Molecular mechanisms explaining why some Plasmodium species are virulent, while other closely related malaria pathogens are relatively benign in the sa...

journal_title：Genomics

authors： Weinberg J,Field JT,Ilgūnas M,Bukauskaitė D,Iezhova T,Valkiūnas G,Sehgal RNM

更新日期：2019-12-01 00:00:00

abstract：:We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisel...

journal_title：Genomics

authors： Mizuguchi T,Okamoto N,Yanagihara K,Miyatake S,Uchiyama Y,Tsuchida N,Hamanaka K,Fujita A,Miyake N,Matsumoto N

更新日期：2020-11-04 00:00:00

abstract：:The human DAZ (deleted in azoospermia) gene family on the Y chromosome and an autosomal DAZ-like gene, DAZL1, encode RNA-binding proteins that are expressed exclusively in germ cells. Their role in spermatogenesis is supported by their homology with a Drosophila male infertility gene boule and sterility of Daz11 knock...

journal_title：Genomics

authors： Tsui S,Dai T,Roettger S,Schempp W,Salido EC,Yen PH

更新日期：2000-05-01 00:00:00

abstract：:The intron-exon organization of the human beta-adducin gene (ADD2) has been determined from overlapping genomic clones. The gene spans over 100 kb on chromosome 2p13 and comprises 17 exons. Seven of the exons are identical in size to the corresponding exons of the alpha-adducin gene (4p16.3), suggesting gene duplicati...

journal_title：Genomics

authors： Gilligan DM,Lozovatsky L,Silberfein A

更新日期：1997-07-15 00:00:00

abstract：:Ultraconservation has been variously defined to describe sequences that have remained identical or nearly so over long periods of evolution to a degree that is higher than expected for sequences under typical constraints associated with protein-coding sequences, splice sites, or transcription factor binding sites. Mos...

journal_title：Genomics

authors： Rödelsperger C,Köhler S,Schulz MH,Manke T,Bauer S,Robinson PN

更新日期：2009-11-01 00:00:00

abstract：:Linkage analysis with DNA probes C11P11 and pi 227 is reported in six Scottish families with familial adenomatous polyposis. Two families were informative for C11P11 and all six were at least partly informative for pi 227. Two C11P11-apc and two pi 227-apc recombinants were identified and one of these was recombinant ...

journal_title：Genomics

authors： Dunlop MG,Steel CM,Wyllie AH,Bird CC,Evans HJ

更新日期：1989-08-01 00:00:00

abstract：:Single nucleotide polymorphism (SNP) interactions can explain the missing heritability of common complex diseases. Many interaction detection methods have been proposed in genome-wide association studies, and they can be divided into two types: population-based and family-based. Compared with population-based methods,...

journal_title：Genomics

authors： Liu J,Yu G,Ren Y,Guo M,Wang J

更新日期：2019-09-01 00:00:00

abstract：:Aneuploidy is a characteristic of the majority of human cancers, and recent work has suggested that mitotic checkpoint defects play a role in its development. To further explore this issue, we isolated a novel human gene, MAD2B (MAD2L2), which is homologous to the spindle checkpoint gene MAD2 (MAD2L1). We determined t...

journal_title：Genomics

authors： Cahill DP,da Costa LT,Carson-Walter EB,Kinzler KW,Vogelstein B,Lengauer C

更新日期：1999-06-01 00:00:00

abstract：:A rapid multiplexed fingerprinting method has been developed for bacterial artificial chromosome (BAC) contig assembly. Defined subsets of BAC DNA fragments that result from digestion by three paired restriction endonucleases are labeled with unique fluorescent F-ddATP for each subset. Lists of the labeled fragment si...

journal_title：Genomics

authors： Ding Y,Johnson MD,Colayco R,Chen YJ,Melnyk J,Schmitt H,Shizuya H

更新日期：1999-03-15 00:00:00

abstract：:Because of the conservation of the ubiquitin coding sequence and the number of transcriptionally active genes and reverse-transcribed pseudogenes, it has not been possible to use ubiquitin cDNA clones to map the functional ubiquitin genes. The UBB and UBC polyubiquitin genes have previously been mapped by the use of s...

journal_title：Genomics

authors： Webb GC,Baker RT,Coggan M,Board PG

更新日期：1994-02-01 00:00:00

abstract：:We have assigned the human tripeptidyl peptidase II (TPP2) gene to chromosome region 13q32-q33 using two different methods. First, a full-length TPP2 cDNA was used as a probe on Southern blots of DNA from a panel of human/rodent somatic cell hybrids. The TPP2 sequences were found to segregate with the human chromosome...

journal_title：Genomics

authors： Martinsson T,Vujic M,Tomkinson B

更新日期：1993-08-01 00:00:00

abstract：:The field of molecular evolution started with the alignment of a few protein sequences in the early 1960s. Among the first results found, the genetic equidistance result has turned out to be the most unexpected. It directly inspired the ad hoc universal molecular clock hypothesis that in turn inspired the neutral theo...

journal_title：Genomics

authors： Luo D,Huang S

更新日期：2016-07-01 00:00:00

abstract：:Seven-in-absentia (sina) is epistatic to all other known genes in the sevenless-ras signaling pathway, which mediates R7 photoreceptor formation in the Drosophila eye. The murine genome contains several closely related sina homologues (Siah1A-D, Siah2) that are also likely to participate in ras signaling. As part of a...

journal_title：Genomics

authors： Holloway AJ,Della NG,Fletcher CF,Largespada DA,Copeland NG,Jenkins NA,Bowtell DD

更新日期：1997-04-15 00:00:00

abstract：:The expression of plasma proteins changes dramatically as a result of cytokine induction, particularly interleukin-6, and their levels are used as clinical markers of inflammation. miRNAs are important regulators of gene expression and play significant roles in many inflammatory diseases and processes. The interaction...

journal_title：Genomics

authors： Lukowski SW,Fish RJ,Martin-Levilain J,Gonelle-Gispert C,Bühler LH,Maechler P,Dermitzakis ET,Neerman-Arbez M

更新日期：2015-08-01 00:00:00

abstract：:Small-scale changes in gene order and orientation are common in plant genomes, even across relatively short evolutionary distances. We investigated the association of retrotransposons in and near rice gene pairs with gene pair conservation, inversion, rearrangement, and deletion in sorghum, maize, and Brachypodium. Co...

journal_title：Genomics

authors： Krom N,Ramakrishna W

更新日期：2012-05-01 00:00:00

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：:Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for...

journal_title：Genomics

authors： Dosé AC,Burnside B

更新日期：2002-05-01 00:00:00

abstract：:The ky mouse mutant, kyphoscoliosis, exhibits a degenerative muscle disease resulting in chronic deformation of the spinal column. Using an interspecific backcross segregating the ky mutation, we have mapped the ky locus to a small region of mouse chromosome 9. ky is nonrecombinant with the microsatellites D9Mit24 and...

journal_title：Genomics

authors： Skynner MJ,Gangadharan U,Coulton GR,Mason RM,Nikitopoulou A,Brown SD,Blanco G

更新日期：1995-01-01 00:00:00

abstract：:Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. Polymorphisms in both APOA5 and APOC3 are strongly associated with plasma triglyceride concentrations. The close genomic locations of these two genes as well as their functional similarity ...

journal_title：Genomics

authors： Olivier M,Wang X,Cole R,Gau B,Kim J,Rubin EM,Pennacchio LA

更新日期：2004-05-01 00:00:00

abstract：:Type V collagen is a fibrillar collagen that is widely distributed in tissues as a minor component of extracellular matrix and is usually composed of one pro alpha 2 (V) and two pro alpha 1 (V) chains. In this report, recently isolated cDNA and genomic clones, which encode the pro alpha 1 (V) chain, are used as probes...

journal_title：Genomics

authors： Greenspan DS,Byers MG,Eddy RL,Cheng W,Jani-Sait S,Shows TB

更新日期：1992-04-01 00:00:00

abstract：:The genes encoding human U2 small nuclear RNA are arrayed in tandem (the RNU2 locus) and have undergone concerted evolution for >35 Myr. Tandem organization of repetitive sequences may facilitate recombination that underlies concerted evolution, but could risk instability. Since DNA methylation plays a crucial role in...

journal_title：Genomics

authors： Jiang C,Liao D

更新日期：1999-12-15 00:00:00

abstract：:Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate genes. Two approaches were taken to identify gene...

journal_title：Genomics

authors： Zucchi I,Jones J,Affer M,Montagna C,Redolfi E,Susani L,Vezzoni P,Parvari R,Schlessinger D,Whyte MP,Mumm S

更新日期：1999-04-15 00:00:00

abstract：:The frizzled (fz) locus in Drosophila is required for the transmission of polarity signals across the plasma membrane in epidermal cells, as well as to their neighboring cells in the developing wing. The identification of a tissue polarity gene from the fz locus in Drosophila melanogaster has been reported. The fz gen...

journal_title：Genomics

authors： Zhao Z,Lee CC,Baldini A,Caskey CT

更新日期：1995-05-20 00:00:00