Report of the committee on the genetic constitution of chromosomes 1 and 2

Morton, N.E.; Bruns, G. A. P.

doi:10.1159/000132473

Cited by 61 publications

(5 citation statements)

References 26 publications

(26 reference statements)

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“…These data suggest that loss of a critical DNA sequence leading to hemizygosity (or homozygosity) of a recessive allele may play an important role in the pathogenesis of this neoplastic disease, a mechanism recently substantiated for retinoblastoma. Although the genes for a number of protooncogenes are clustered in or near this region of lp [BLYM and MYCL, 1p32; LCK, lp32-35; NRAS and NGFB, lp22; FGR, 1p36 (27)], JUN is the only member of this group known to encode a transcriptional regulator. Thus, it is possible that altered function of this gene could lead to deregulated cell growth.…”

Section: Discussionmentioning

confidence: 99%

Structure and chromosomal localization of the functional intronless human JUN protooncogene.

Hattori

Angel

Beau

et al. 1988

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

197

106

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The JUN protooncogene encodes a protein that is functionally and biochemically identical to the transcription factor AP-1 (activator protein 1). To understand the structure and regulation of this important gene, a genomic clone of human JUN was isolated and its primary structure and transcription pattern were determined. Most surprisingly, the sequence of the genomic clone was found to be contiguous with the sequence of the JUN cDNA, suggesting that it lacks introns. RNase protection experiments confirm that JUN is an intronless gene that yields several transcripts due to 5' and 3' heterogeneities. Transfection experiments show that the cloned gene is functional, as it encodes a trans-acting factor that stimulates transcription of AP-1-dependent reporter gene. In situ hybridization was used to map JUN to chromosomal region 1p31-32. Interestingly, this region is frequently deleted in neuroblastomas, suggesting that elimination of AP-1 may play an important role in the pathogenesis of this disease.

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Section: Discussionmentioning

confidence: 99%

Structure and chromosomal localization of the functional intronless human JUN protooncogene.

Hattori

Angel

Beau

et al. 1988

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

197

106

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“…In their report on the genetic constitu tion of chromosome 2, Morton and Bruns (1987) have numbered at least 11 loci comprised in this region of homology, including MYL1. CHRNG.…”

Section: Discussionmentioning

confidence: 99%

Localization of the acetylcholine receptor γ subunit gene to human chromosome 2q32→qter

Cohen-Haguenauer

Barton

Buonanno

et al. 1989

Cytogenet Genome Res

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The nicotinic acetylcholine receptor of skeletal muscle (CHRN in man, Acr in mouse) is a transmembrane protein composed of four different subunits (α, β, γ, and δ) assembled into the pentamer α2βγδ. These subunits are encoded by separate genes which derive from a common ancestral gene by duplication. We have used a murine full-length 1,900-bp-long cDNA encoding the γ subunit subcloned into M13 (clone γ18) to prepare single-stranded probes for hybridization to EcoRI-digested DNA from a panel of human × rodent somatic cell hybrids. Using conditions of low stringency to favor cross-species hybridization, and prehybridization with rodent DNA to prevent rodent background, we detected a single major human band of 30–40 kb. The pattern of segregation of this 30–40 kb band correlated with the segregation of human chromosome 2 within the panel and the presence of a chromosomal translocation in the distal part of the long arm of this t(X;2)(p22;q32.1) chromosome allowing the localization of the γ subunit gene (CHRNG) to 2q32→qter. The human genes encoding the γ and δ subunits have been shown to be contained in an EcoRl restriction fragment of approximately 20 kb (Shibahara et al., 1985). Consequently, this study also maps the δ subunit gene (CHRND) to human chromosome 2q32.1→qter. In the mouse, the Acrd and Acrg genes have been shown to be linked to Idh-1, Mylf(lDHI and MYL1 in humans, respectively) and to the gene encoding villin on chromosome 1. Interestingly, we have recently localized the human MYL1 gene to the same chromosomal fragment of human chromosome 2. These results clearly demonstrate a region of chromosomal homoeology between mouse chromosome 1 and human chromosome 2.

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“…The genes of a number of the other proteins containing sushi domains have also been found in a similar region on chromosome 1 at band q32 (Morton & Burns, 1987).…”

mentioning

confidence: 92%

Nucleotide sequence of the gene for the b subunit of human factor XIII

Bottenus¹,

Ichinose²,

Davie³

1990

Biochemistry

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Factor XIII (Mr 320,000) is a blood coagulation factor that stabilizes and strengthens the fibrin clot. It circulates in blood as a tetramer composed of two a subunits (Mr 75,000 each) and two b subunits (Mr 80,000 each). The b subunit consists of 641 amino acids and includes 10 tandem repeats of 60 amino acids known as GP-I structures, short consensus repeats (SCR), or sushi domains. In the present study, the human gene for the b subunit has been isolated from three different genomic libraries prepared in lambda phage. Fifteen independent phage with inserts coding for the entire gene were isolated and characterized by restriction mapping, Southern blotting, and DNA sequencing. The gene was found to be 28 kilobases in length and consisted of 12 exons (I-XII) separated by 11 intervening sequences. The leader sequence was encoded by exon I, while the carbonyl-terminal region of the protein was encoded by exon XII. Exons II-XI each coded for a single sushi domain, suggesting that the gene evolved through exon shuffling and duplication. The 12 exons in the gene ranged in size from 64 to 222 base pairs, while the introns ranged in size from 87 to 9970 nucleotides and made up 92% of the gene. The introns contained four Alu repetitive sequences, one each in introns A, E, I, and J. A fifth Alu repeat was present in the flanking 3' end of the gene. Two partial KpnI repeats were also found in the introns, including one in intron I and one in intron J. The KpnI repeat in intron J was 89% homologous to a sequence of approximately 2200 nucleotides flanking the gene coding for human beta globin and approximately 3800 nucleotides from the L1 insertion present in the gene for human factor VIII. Intron H also contained an "O" family repeat, while two potential regions for Z-DNA were identified within introns G and J. One nucleotide change was found in the coding region of the gene when its sequence was compared to that of the cDNA. This difference, however, did not result in a change in the amino acid sequence of the protein.

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Report of the committee on the genetic constitution of chromosomes 1 and 2

Cited by 61 publications

References 26 publications

Structure and chromosomal localization of the functional intronless human JUN protooncogene.

Structure and chromosomal localization of the functional intronless human JUN protooncogene.

Localization of the acetylcholine receptor γ subunit gene to human chromosome 2q32→qter

Nucleotide sequence of the gene for the b subunit of human factor XIII

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