Scientific References: Human Genetic Engineering
(including Cloning): Artificial Embryos, Oocytes, Sperms, Chromosomes and Genes

-- Genomics. 2004 May;83(5):844-51

Human artificial chromosomes containing chromosome 17 alphoid DNA maintain an active centromere in murine cells but are not stable. Alazami AM, Mejia JE, Monaco ZL. (UK)

Human artificial chromosomes (HACs) are autonomous molecules that can function and segregate as normal chromosomes in human cells. De novo HACs have successfully been used as gene expression vectors to complement genetic deficiencies in human cultured cells. HACs now offer the possibility of studying the regulation and expression of large genes in a variety of cell types from different tissues and correcting gene deficiencies caused by human inherited diseases. PMID: 15081114 [PubMed - in process]

-- Arch Inst Pasteur Tunis. 2000;77(1-4):55-8

Genomic structure and characterisation of the promoter region of the human IL-18 gene. el Kares R, Abdelhak S, Dellagi K. (Tunis Belvedere)

By a direct sequencing on P1 Artificial Chromosomes (PAC) clones, we have determined the genomic structure and the promoter region of the human IL-18 gene. [PMID: 14658229]

-- Scand J Immunol. 2000 Dec;52(6):525-30

Genomic organization and regulation of the human interleukin-18 gene. Kalina U, Ballas K, Koyama N, Kauschat D, Miething C, Arnemann J, Martin H, Hoelzer D, Ottmann OG. (Germany)

Here we report the complete genomic structure and characterization of the 5'untranslated promoter region of the human IL-18 gene. [PMID: 11119255]

-- Cytogenet Genome Res. 2003;101(2):178

Assignment of SOD3 to human chromosome band 4p15.3-->p15.1 with somatic cell and radiation hybrid mapping, linkage mapping, and fluorescent in-situ hybridization. Stern LF, Chapman NH, Wijsman EM, Altherr MR, Rosen DR. (USA)

[PMID: 14619883]

-- Genome Res. 2004 Mar;14(3):367-72. Epub 2004 Feb 12

Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional. Frazer KA, Tao H, Osoegawa K, de Jong PJ, Chen X, Doherty MF, Cox DR. (USA)

Cross-species DNA sequence comparison is a fundamental method for identifying biologically important elements, because functional sequences are evolutionarily conserved, whereas nonfunctional sequences drift. A recent genome-wide comparison of human and mouse DNA discovered over 200,000 conserved noncoding sequences with unknown function. Examination of genomic deletions in chimpanzee and rhesus macaque DNA showed that several putatively functional conserved noncoding human sequences were absent in these primates. These findings suggest that functional conserved noncoding human sequences can be missing in other mammals, even closely related primate species. [PMID: 14962988]

-- J Med Genet. 2004 Feb;41(2):113-9

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. (USA)

Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup(17)(p11.2p11.2) syndrome. A BAC/PAC array based comparative genomic hybridisation (array-CGH) method was tested for its ability to detect these genomic dosage differences and map breakpoints in 25 patients with recurrent and non-recurrent rearrangements. [PMID: 14757858]


- Am J Med Genet. 2004 May 15;127B(1):128-30

Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2-p24.3-p24.2. Higgins JJ, Lombardi RQ, Pucilowska J, Ruszczyk MU. (USA)

A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3-p24.2. This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor. Copyright 2003 Wiley-Liss, Inc. PMID: 15108195 [PubMed - in process]

-- Cancer Genet Cytogenet. 2004 Feb;149(1):72-6

A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene. Bezrookove V, van Zelderen-Bhola SL, Brink A, Szuhai K, Raap AK, Barge R, Beverstock GC, Rosenberg C. (Netherlands)

Cytogenetic studies in a patient with acute myelocytic leukemia (AML) ... FISH experiments using genomic probes showed that the breakpoint on 14q32.2 was within bacterial artificial chromosome RP11-782I5 [PMID: 15104287]

-- Pharmacogenomics J. 2004 Mar 9

Gene editing of a human gene in yeast artificial chromosomes using modified single-stranded DNA and dual targeting. Van Brabant AJ, Williams JK, Parekh-Olmedo H, Kmiec EB. (USA)

A single-nucleotide polymorphism (SNP) in a human gene can alter the behavior of the corresponding protein, and thereby affect an individual's response to drug therapy. Here, we describe a novel dual-targeting approach for introducing an SNP of choice into virtually any gene, through the use of modified single-stranded oligonucleotides (MSSOs). We use this strategy to create SNPs in a human gene contained in a yeast artificial chromosome (YAC). [PMID: 15007372]

-- BMC Biotechnol. 2004 Apr 21;4(1):8

Rapid isolation of yeast genomic DNA: Bust n' Grab. Harju S, Fedosyuk H, Peterson KR. (USA)

Mutagenesis of yeast artificial chromosomes (YACs) often requires analysis of large numbers of yeast clones to obtain correctly targeted mutants. We demonstrated the utility of this method by showing an analysis of yeast clones containing a mutagenized human beta-globin locus YAC. PMID: 15102338 [PubMed - in process]

-- Genes Chromosomes Cancer. 2004 May;40(1):66-71

Computational BAC clone contig assembly for comprehensive genome analysis. Lapuk A, Volik S, Vincent R, Chin K, Kuo WL, de Jong P, Collins C, Gray JW. (USA)

Comparative genomic hybridization (CGH) has proved to be a powerful tool for the detection of genome copy number changes in human cancers and in other diseases caused by segmental aneusomies. Array versions of CGH allow the definition of these aberrations, with resolution determined by the size and distribution of the array elements. Resolution approaching 100 kb can be achieved by use of arrays comprising bacterial artificial chromosomes (BACs) distributed contiguously across regions of interest. PMID: 15034871 [PubMed - in process]

-- Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2386-91

Exceptional conservation of horse-human gene order on X chromosome revealed by high-resolution radiation hybrid mapping. Raudsepp T, Lee EJ, Kata SR, Brinkmeyer C, Mickelson JR, Skow LC, Womack JE, Chowdhary BP. (USA)

Development of a dense map of the horse genome is key to efforts aimed at identifying genes controlling health, reproduction, and performance. We herein report a high-resolution gene map of the horse (Equus caballus) X chromosome (ECAX) generated by developing and typing 116 gene-specific and 12 short tandem repeat markers on the 5,000-rad horse x hamster whole-genome radiation hybrid panel and mapping 29 gene loci by fluorescence in situ hybridization. The human X chromosome sequence was used as a template. Comparison of the horse and human X chromosome maps shows remarkable conservation of gene order. The map will be instrumental for ... building bacterial artificial chromosome contigs, or sequencing. [PMID: 14983019]

-- Nat Genet. 2004 Mar;36(3):299-303. Epub 2004 Feb 15

A tiling resolution DNA microarray with complete coverage of the human genome. Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL. (Canada)

We constructed a tiling resolution array consisting of 32,433 overlapping BAC clones covering the entire human genome. This increases our ability to identify genetic alterations and their boundaries throughout the genome in a single comparative genomic hybridization (CGH) experiment. [PMID: 14981516]

-- Neuron. 2004 Mar 4;41(5):687-99; Comment in: Neuron. 2004 Mar 4;41(5):677-9

Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Sopher BL, Thomas PS Jr, LaFevre-Bernt MA, Holm IE, Wilke SA, Ware CB, Jin LW, Libby RT, Ellerby LM, La Spada AR. (USA)

X-linked spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disorder characterized by lower motor neuron degeneration. To determine the basis of AR polyglutamine neurotoxicity, we introduced human AR yeast artificial chromosomes carrying either 20 or 100 CAGs into mouse embryonic stem cells. [PMID: 15003169]

-- Methods Mol Biol. 2004;240:243-66

Modification of human bacterial artificial chromosome clones for functional studies and therapeutic applications. Orford MR, Jamsai D, McLenachan S, Ioannou PA. (Australia)

[PMID: 14970414]

-- Methods Mol Biol. 2004;240:187-206

Mammalian artificial chromosome formation in human cells after lipofection of a PAC precursor. de las Heras JI, D'Aiuto L, Cooke H. (UK)

[PMID: 14970411]

-- Methods Mol Biol. 2004;240:35-52

Mapping of the hotspots of recombination in human DNA cloned as yeast artificial chromosomes. Ira G, Krol J, Filipski J. (Poland)

[PMID: 14970404]

-- Genome Res. 2004 Apr;14(4):721-32

The Atlas genome assembly system. Havlak P, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Weinstock GM, Gibbs RA. (USA), Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.

Atlas is a suite of programs developed for assembly of genomes by a "combined approach" that uses DNA sequence reads from both BACs and whole-genome shotgun (WGS) libraries. [PMID: 15060016]

-- Genome Res. 2004 Apr;14(4):679-84

Dynamic building of a BAC clone tiling path for the Rat Genome Sequencing Project. Chen R, Sodergren E, Weinstock GM, Gibbs RA.

CLONEPICKER is a software pipeline that integrates sequence data with BAC clone fingerprints to dynamically select a minimal overlapping clone set covering the whole genome. In the Rat Genome Sequencing Project (RGSP), a hybrid strategy of "clone by clone" and "whole genome shotgun" approaches was used to maximize the merits of both approaches. [PMID: 15060010]

-- Arch Virol. 2004 Mar;149(3):495-506. Epub 2003 Nov 13

Glycoprotein gpTRL10 of human cytomegalovirus is dispensable for virus replication in human fibroblasts. Spaderna S, Hahn G, Mach M. (Germany)

Human cytomegalovirus (HCMV) has a coding capacity for glycoproteins which by far exceeds that of other herpesviruses. [PMID: 14991439]

-- J Neuropathol Exp Neurol. 2004 Feb;63(2):151-8

Characterization of the 1p/19q chromosomal loss in oligodendrogliomas using comparative genomic hybridization arrays (CGHa). Cowell JK, Barnett GH, Nowak NJ. (USA)

Loss of genetic material from the short arm of chromosome 1 and the long arm of chromosome 19 in anaplastic oligodendrogliomas has been shown to predict responsiveness to chemotherapy. We have investigated the use of comparative genomic hybridization arrays (CGHa) of bacterial artificial chromosomes (BACs) in the identification of tumor samples that carry loss of the 1p/19q chromosome arms. [PMID: 14989601]

-- Virology. 2004 Jan 5;318(1):420-8

DNA immunization with a herpes simplex virus 2 bacterial artificial chromosome. Meseda CA, Schmeisser F, Pedersen R, Woerner A, Weir JP. (USA)

Construction of a herpes simplex virus 2 (HSV-2) bacterial artificial chromosome (BAC) is described. [PMID: 14972567]

-- Br J Cancer. 2004 Feb 23;90(4):860-5

Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes. Cowell JK, Wang YD, Head K, Conroy J, McQuaid D, Nowak NJ. (USA)

Constitutional chromosome deletions and duplications frequently predispose to the development of a wide variety of cancers. We have developed a microarray of 6000 bacterial artificial chromosomes for array-based comparative genomic hybridisation, which provides an average resolution of 750 kb across the human genome. [PMID: 14970865]

-- Stem Cells 2004;22 324-333

Transfer and Stable Transgene Expression of a Mammalian Artificial Chromosome into Bone Marrow-Derived Human Mesenchymal Stem Cells. S. Vanderbyl, G. N. MacDonald, S. Sidhu, L. Gung, A. Telenius, C. Perez, and E. Perkins.

-- Int J Biochem Cell Biol. 2001 Dec;33(12):1172-82

Cloning and characterization of a novel human TEKTIN1 gene. Xu M, Zhou Z, Cheng C, Zhao W, Tang R, Huang Y, Wang W, Xu J, Zeng L, Xie Y, Mao Y. (PeopleÕs Republic of China)

A new member of the tektin gene family was cloned from the human fetal brain cDNA library. We hence named it the human TEKTIN1 gene. TEKTIN1 gene was mapped to the human chromosome 17. Northern blot analysis indicated that TEKTIN1 was predominantly expressed in testis. By in-situ hybridization analysis, TEKTIN1 mRNA was localized to spermatocytes and round spermatids in the seminiferous tubules of the mouse testis, indicating that it may play a role in spermatogenesis. [PMID: 11606253]

-- Genomics. 1993 Aug;17(2):287-93

Cloning of a portion of the chromosomal gene and cDNA for human beta-fodrin, the nonerythroid form of beta-spectrin. Chang JG, Scarpa A, Eddy RL, Byers MG, Harris AS, Morrow JS, Watkins P, Shows TB, Forget BG. (USA)

A 96-bp synthetic oligonucleotide corresponding to an amino acid sequence near the N-terminus of erythroid beta-spectrin was used to screen a human genomic library, and two overlapping recombinants were isolated. DNA sequence analysis established that the genomic fragment encoded beta-fodrin, the nonerythroid form of beta-spectrin, by correlation to a known amino acid sequence of human brain beta-fodrin. The chromosomal localization of the gene was determined to be chromosome 2. [PMID: 8406479]

-- Biochem Biophys Res Commun. 1994 Apr 15;200(1):606-11

Molecular cloning of human hippocalcin cDNA and chromosomal mapping of its gene. Takamatsu K, Kobayashi M, Saitoh S, Fujishiro M, Noguchi T. (Japan)

We have isolated a cDNA clone encoding human hippocalcin from a human hippocampus cDNA library. Northern blot analysis showed that a single transcript at a position corresponding to 2.0 kb was detected only in the brain. The human hippocalcin gene was mapped to chromosome 1 by amplification of human hippocalcin-specific DNA fragment on DNA from human-rodent somatic cell hybrids by using the polymerase chain reaction. [PMID: 8166736]

-- Mol Cell Endocrinol. 1994 Jul;103(1-2):R1-6

The human gonadotropin-releasing hormone (GnRH) receptor gene: cloning, genomic organization and chromosomal assignment. Fan NC, Jeung EB, Peng C, Olofsson JI, Krisinger J, Leung PC. (Canada)

To determine the structure of the gene encoding the human GnRH receptor, we have screened a human genomic library and isolated seven positive clones, using cDNA probes derived from a human pituitary cDNA library. Genomic Southern blot analysis indicated the presence of a single copy of the gene encoding for the GnRH receptor within the human genome. Using DNA from human-hamster somatic hybrid cell lines, the GnRH receptor gene was assigned to human chromosome 4, by means of PCR. [PMID: 7958384]

-- Genomics. 1991 Jun;10(2):432-40

Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. Hewitt JE, Gordon MM, Taggart RT, Mohandas TK, Alpers DH. (USA)

A human gastric intrinsic factor (IF) cDNA clone was isolated using a rat cDNA clone as a probe. Comparison of the predicted amino acid sequence revealed 80% identity of human IF with rat IF. These cDNA clones were used to isolate and map two overlapping clones encoding the human IF gene. The IF gene was localized to human chromosome 11. [PMID: 2071148]

-- Gene. 1995 Apr 3;155(2):213-7

Cloning, sequencing and localization to chromosome 11 of a cDNA encoding a human opioid-binding cell adhesion molecule (OBCAM). Shark KB, Lee NM. (USA)

Oligodeoxyribonucleotide (oligo) primers derived from rat opioid-binding cell adhesion molecule (OBCAM)-encoding cDNA sequence were used to amplify a 403-bp fragment from a human brain cDNA library using the polymerase chain reaction (PCR). OBCAM was mapped to human chromosome 11 by hybridizing the probe with a somatic cell hybrid panel. [PMID: 7721093]

-- Genomics. 1991 Sep;11(1):174-8

Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter. Dodge GR, Kovalszky I, McBride OW, Yi HF, Chu ML, Saitta B, Stokes DG, Iozzo RV. (USA)

The nucleotide sequence of a 916-bp human cDNA clone isolated from a human colon lambda gt11 cDNA library was determined. Southern analysis of human/rodent somatic cell hybrids localized the human clathrin heavy chain gene (CLTC) to chromosome 17. Additional analyses using panels of human/rodent somatic cell hybrids with specific chromosomal translocations and deletions mapped the human clathrin heavy chain gene locus to 17q11-qter. [PMID: 1765375]

-- Eur J Immunol. 1998 Aug;28(8):2417-23

Genomic organization of the human C3a receptor. Paral D, Sohns B, Crass T, Grove M, Kohl J, Klos A, Bautsch W. (Germany)

The C3aR is a single-copy gene as shown by Southern hybridization of human genomic DNA. (2) Using PCR amplification of DNA from monochromosomal somatic cell hybrid and radiation hybrid panels, the C3aR locus was mapped to chromosome 12p13. (3) Genomic DNA clones encompassing the C3aR locus were isolated from a human genomic DNA library and characterized. [PMID: 9710219]

-- Genomics. 1999 Nov 1;61(3):285-97

Human indolethylamine N-methyltransferase: cDNA cloning and expression, gene cloning, and chromosomal localization. Thompson MA, Moon E, Kim UJ, Xu J, Siciliano MJ, Weinshilboum RM. (USA)

We have now used a PCR-based approach to clone a human INMT cDNA. The human cDNA was then used to clone the human INMT gene from a human genomic BAC library. Human INMT mapped to chromosome 7p15.2-p15.3. [PMID: 10552930]

-- Proc Natl Acad Sci U S A. 1986 Oct;83(19):7211-5

Cloning and sequence analysis of cDNA for human argininosuccinate lyase. O'Brien WE, McInnes R, Kalumuck K, Adcock M. (USA)

Using antibodies specific for argininosuccinate lyase (EC, we isolated two cDNA clones by screening a human liver cDNA library constructed in the lambda gt11 expression vector. The entire nucleotide sequence of this clone was determined. By use of a genomic DNA panel from human-Chinese hamster somatic cell hybrids, the human gene was mapped to chromosome 7. Another hybridizing region, corresponding to a portion of the 5' end of the cDNA, was found on chromosome 22. [PMID: 3463959]

-- Biology of Reproduction: Vol. 70, No. 2, pp. 415Ð418 (2004)

Nuclear Transfer of Adult Bone Marrow Mesenchymal Stem Cells: Developmental Totipotency of Tissue-Specific Stem Cells from an Adult Mammal. Kato, Yoko, Imabayashi, Hideaki, Mori, Taisuke, Tani, Tetsuya, Taniguchi, Masanori, Higashi, Mikihiko, Matsumoto, Michio, Umezawa, Akihiro, Tsunoda, Yukio (Japan)

Considered together, the differentiation potential of the somatic stem cell nucleus itself remains unclear. Although the pluripotency of somatic stem cell populations has been evaluated, the developmental totipotency of the nuclei of somatic stem cells, whether or not they fused with other cells, has not been shown, except in only one study concerning fetal neural cells (never in adult stem cells). Here, we showed the developmental totipotency of adult bovine mesenchymal stem cells by nuclear transfer.

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