Assignment of the human mitochondrial NAD-linked malate dehydrogenase gene to the p22→qter region of chromosome 7

Shimizu, Nobuyoshi; Shimizu, Yoshiko; Ruddle, Frank H.

doi:10.1159/000130992

Cited by 11 publications

(7 citation statements)

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“…With the exception of three residues (marked by asterisks in Fig. 3), the predicted C region sequence agrees exactly with that of the MOPC 104E ,u chain (17). We (11).…”

Section: Materials and Methods Labeling Of Restriction Endonuclease Fsupporting

confidence: 65%

“…Restriction fragments with 5' overhanging ends (HindIII, HinfI, Hpa II, BamHI, and Bgl II) were labeled by "filling in" the 3' termini. Reaction mixtures (generally 25 Ml) contained [10][11][12][13][14][15][16][17][18][19][20] (14); (B) the region around the rearranged CQ gene in clone Ch-H76M1 (11); and (C) the region around the rearranged VH76 gene in clone Ch-H76,u119. The left-and rightmost Pst I sites of the cDNA clone were generated by the oligo(dGdC) tailing procedure used to insert the cDNA into the plasmid vector (14,15).…”

Section: Materials and Methods Labeling Of Restriction Endonuclease Fmentioning

confidence: 99%

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Nucleotide sequence of immunoglobulin heavy chain joining segments between translocated VH and mu constant regions genes.

Bernard¹,

Gough²

1980

Proc. Natl. Acad. Sci. U.S.A.

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To investigate the mechanism of recombination of immunoglobulin heavy chain variable and constant region genes, we ave determined the nucleotide sequence of a large portion of the recombination region between an active Cp gene and its associated VH gene, isolated from an IgM-secreting mouse plasmacytoma, HPC76. By comparison with the sequence of the p mRNA, we determined the exact boundaries of the intervening sequence between the VH76 and Cu genes. The rearranged VH76 gene encodes up to amino acid 116 without interruption, the 3' 39 nucleotides (the Jmo region) being derived from an embryonic JH segment (JH315) whose sequence was recently determined [Early, P., Huang, H., Davis, M., Calame, K & Hood, L. (1980) Cell 195, 981-992]. The active JH76 does not use the first two codons of the embryonic JH315 from which it is derived. This indicates that V-J recombination is important in generating diversity within the third hypervariable region of heavy chains. We have identified another JH segment (aJ), located 336 nucleotides 3' to the rearranged JH7e segment. This JH segment is expressed in the heavy chains of anti-levan myeloma proteins, which have truncated third hypervariable regions. We propose that the nucleotide sequence 5' to JHA4 is important or generating V region genes with shortened third hypervariable regions. The immunoglobulin gene family is the only eukaryotic gene system found so far in which somatic rearrangements take place during cell differentiation. For the Ig light (L) chain system, it is well established that during lymphocyte development a particular variable (V) and constant (C) gene, which are distant in the germline, are brought into proximity to produce an active gene (1, 2). More detailed analysis has revealed that the VL gene itself consists of two separate DNA segments, one specifying the NH2-terminal 95 or 97 amino acids of a classical VK or VA region, and another, now termed "joining" (J), region specifying the remaining 13 amino acids (3-6). In the germline, the J segment is adjacent to the C gene but separated from it by an intervening sequence. During the somatic rearrangement of V and C genes, a recombination event joins the V and J genes, without altering the spacing between J and C (1, 3). The intervening sequence between VJ and C appears to be transcribed and removed from the pre-mRNA by RNA excision and splicing (7). The J region gene and its flanking DNA sequences thus seem to be involved in two key processes essential for the expression of an immunoglobulin gene: site-specific V-J recombination and VJ-C RNA splicing.Gene rearrangements in the heavy (H) chain system are of particular biological interest because a single VH region can be associated with different CH classes in the same cell or cell lineage (8, 9). Recent work indicates that rearrangement of VH and JH is in some respects similar to VL-JL joining. During rearrangement, a VH gene can recombine with one of at least two JH genes, which lie 5' to the C.l gene (10). Early et al. (10) have, however, propo...

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“…With the exception of three residues (marked by asterisks in Fig. 3), the predicted C region sequence agrees exactly with that of the MOPC 104E ,u chain (17). We (11).…”

Section: Materials and Methods Labeling Of Restriction Endonuclease Fsupporting

confidence: 65%

Section: Materials and Methods Labeling Of Restriction Endonuclease Fmentioning

confidence: 99%

Nucleotide sequence of immunoglobulin heavy chain joining segments between translocated VH and mu constant regions genes.

Bernard¹,

Gough²

1980

Proc. Natl. Acad. Sci. U.S.A.

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“…At the Baltimore Conference (1975), a locus that affects the expression of the MN blood group was provisionally assigned to chromosome 2. Further studies of this blood-group marker made this assignment rather Shimizu et al (1977) SV40-la S P Croce (1977); Knowles et al (19776); Koprowski and Croce (1977); SA7-P> S P Cicurel and C roce (1977) SA7-2b S P Knowles et al (1977a) Ruutu et al (1977) COL, S P Solomon and Sykes (1977) a SV-40 association with, or integration into, a chromosome is established by using various SV40 phenotypes as genetic markers. The SV40 transformation, T antigen, and nucleic acid sequence "phenotypes" have been used in this regard.…”

Section: Gene Assignments To Chromosome 4 (Tables III and Iv Fig 2)mentioning

confidence: 99%

Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

Bootsma¹,

Ruddle²

1978

Cytogenet Genome Res

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“…Marker enzymes for specific human chromosomes were determined by using established electrophoretic methods (23)(24)(25)(26)(27)(28)(29)(30)(31). Metaphase spreads of primary hybrid clones were prepared (32) and the chromosomes were banded to distinguish mouse from human chromosomes by the Giemsa 11 technique (33); the chromosomes were subsequently destained and banded with quinacrine hydrochloride fluorescence (34).…”

Section: Methodsmentioning

confidence: 99%

Regional assignment of the structural gene for human alpha-L-iduronidase.

Schuchman¹,

Astrin²,

Aula³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

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The structural gene encoding human a-Liduronidase has been assigned to chromosome 22 by using inmunologic, electrophoretic, and somatic cell hybridization techniques. Polyclonal rabbit antibodies raised against purified human low-uptake a-L-iduronidase were used to discriminate the human and murine isozymes by a sensitive immunoprecipitation assay. The human chromosome constitution of each clone was determined by cytogenetic and enzyme marker electrophoretic techniques. In 65 human (fibroblast)-mouse (RAG) somatic cell hybrids (from four independent fusions), the expression of human a-L-iduronidase was 100% concordant with the presence of human chromosome 22; the assignment was confirmed by the demonstration of the human enzyme in tertiary somatic cell hybrids containing only chromosome 22. Further verification of the gene assignment was made by detection of the human enzyme in tertiary chromosome 22 positive hybrids by Ouchterlony immunodiffusion and rocket immunoelectrophoretic experiments with polyclonal anti-human a-L-iduronidase antibodies that were monospecific for the human enzyme. Expression of human enzymatic activity in chromosome 22 positive hybrid lines was markedly reduced; for example, a tertiary hybrid (R-G21-J-15), which contained an average of 1.7 chromosome 22s per cell, only had about 15% of the activity detected in normal diploid fibroblasts. Immunologic studies suggested that the reduced expression was due to abnormal post-translational processing or aggregation (or both) of the human and murine isozymes in these hybrids. Regional assignment of the human structural gene to 22pter -* qll was accomplished by gene dosage studies using diploid human fibroblast lines that were partially monosomic or trisomic for chromosome 22.a-L-Iduronidase (a-L-iduronide iduronohydrolase, EC 3.2.1.76) is a lysosomal hydrolase required for the degradation of the mammalian glycosaminoglycans, dermatan sulfate and heparan sulfate (1-3). Fibroblast endocytosis studies have revealed that the normal human enzyme exists in two major forms, termed high uptake and low uptake (4-7). Both enzyme forms are monomeric glycoproteins whose respective physical and kinetic properties have been determined (8-12). Mucopolysaccharide storage diseases resulting from the deficient activity of this enzyme have been described in human (1, 2, 13-15), feline (16), and canine (17) species. The human disorders, Hurler, Scheie, and the Hurler-Scheie compound, have been of particular interest to geneticists because they represent phenotypically diverse diseases that presumably result from different, recessive mutations in the structural gene encoding this enzyme (15).During the past decade, a-L-iduronidase also has served as a prototype for studies of the receptor-mediated endocytosis (4-7) and maturation (18) of lysosomal enzymes. However, despite the fact that this hydrolase has occupied a central role in human cell biology and genetics, the chromosomal location of its structural gene has not been determined. In this communication,...

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Assignment of the human mitochondrial NAD-linked malate dehydrogenase gene to the p22→qter region of chromosome 7

Cited by 11 publications

References 0 publications

Nucleotide sequence of immunoglobulin heavy chain joining segments between translocated VH and mu constant regions genes.

Nucleotide sequence of immunoglobulin heavy chain joining segments between translocated VH and mu constant regions genes.

Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

Regional assignment of the structural gene for human alpha-L-iduronidase.

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