Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.

Venta, Patrick J.; Shows, Thomas B.; Curtis, Peter J.; Tashian, Richard E.

doi:10.1073/pnas.80.14.4437

Cited by 41 publications

(20 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Venta et al (11) (1). Strong evolutionary pressure must have been necessary to retain the proposed linkage arrangement of these three genes over such a long period of time.…”

Section: Discussionmentioning

confidence: 99%

“…However, CAII deficiency has been directly correlated with an inherited syndrome marked by osteopetrosis with renal tubular acidosis and cerebral calcification (7). Genetic studies have shown that the genes encoding CAI and CAII are closely linked in mammals (8)(9)(10) and the availability of cloned probes of the mouse CAMI gene has led to the assignment of these genes to chromosome 8 in humans (11).…”

mentioning

confidence: 99%

See 1 more Smart Citation

Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes.

Wade¹,

Gunning²,

Eddy³

et al. 1986

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

View full text Add to dashboard Cite

The carbonic anhydrases (CA) are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide. The genes for the carbonic anhydrase isozymes are members of a multigene family that are differentially expressed in a number of cell types. We have isolated a full-length representative of a CAIII mRNA transcript from an adult human muscle cDNA library, and we present the complete nucleotide sequence of this cDNA clone. RNA blots demonstrate that CAIII messages can be detected in a variety of cell types but that high-level expression is limited to human fetal and adult skeletal muscle and to rodent slow skeletal muscle and liver. In addition, we have used a panel of human-mouse cell hybrids to localize the human CAIII gene to chromosome 8. Previous reports have established the CAI and CAII isozyme genes to be closely linked on chromosome 8, and the assignment of the CAIII gene to the same chromosome raises the possibility that these genes may all be linked at a single complex locus.

show abstract

“…Venta et al (11) (1). Strong evolutionary pressure must have been necessary to retain the proposed linkage arrangement of these three genes over such a long period of time.…”

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes.

Wade¹,

Gunning²,

Eddy³

et al. 1986

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

View full text Add to dashboard Cite

show abstract

“…Protein and cDNA nucleotide sequence analyses of CAI, CAII, and CAIII have shown that these genes are evolutionarily related (for review of CA see Tashian and Hewett-Emmett 1984). These three genes in man have been assigned to chromosome 8 (Venta et al 1983;Edwards et al 1986a, b), and more recently it has been shown that CAI and CAIII are in the same region of this human chromosome at q22 (Davis et al 1987).…”

mentioning

confidence: 99%

Human muscle carbonic anhydrase: gene structure and DNA methylation patterns in fetal and adult tissues.

Lloyd¹,

Brownson²,

Tweedie³

et al. 1987

Genes Dev.

View full text Add to dashboard Cite

We report the isolation and analysis of genomic clones comprising the entire gene coding for the human muscle carbonic anhydrase, CAIII. The gene spans 10.3 kb and has a seven-exon/six-intron structure. A noncanonical TATA box, a CCAAT motif, and two CCGCCC elements are present in the sequences upstream of exon 1. Although the expression of CAIII shows strict tissue specificity, the gene exhibits a number of features normally associated with housekeeping enzymes. For example, there is 48% homology with a 25-bp consensus sequence between the TATA box and the cap site and there is a CpG-rich island spanning a 469-bp sequence near to the origin of transcription. Methylation studies suggest that some CCGG sites clustered in the CpG-rich island are undermethylated in DNA from fetal and adult muscle and in other tissues irrespective of CAIII expression. In contrast, several nonclustered CCGG sites show a methylation pattern that correlates with gene expression. However DNA from differentiated type II adult muscle fibers is undermethylated at these sites even though CAIII is not expressed.

show abstract

“…A.L.S P (Brennan et al, 1986) ql3-q22 CA1 carbonic anhydrase I A,R,S C ) (Kearney et al, 1987) (Davis et al, 1987) ql3-q22 CA2 + carbonic anhydrase 11 A,R,S C (Venta et al, 1983) (Nakai et al, 1987) ql3-q22 CA3 + carbonic anhydrase III, muscle specific A,R,S c ) (Wade et al, 1986) (Kearney et al, 1987) (Davis et al, 1987) (Beechey et al, 1990 q22 D8S107 DNA Segment, single copy probe pBS8-93 S D (Wagner, 1990) q22 D8S110 DNA Segment, single copy probe pBS8-122 S D (Wagner, 1990) q22 D8S111 DNA Segment, single copy probe pBS8-124 S D (Wagner, 1990) q22 D8S117 DNA Segment, single copy probe pBS8-134 S D (Wagner, 1990) q22 D8S91 DNA Segment, single copy probe pL8-25 S D (Wagner, 1990) q22 D8S95 DNA Segment, single copy probe pBS8-45 S D (Wagner, 1990) q22 D8S97 DNA Segment, single copy probe pBS8-51 S D (Wagner, 1990) q22-qter D8S100 DNA Segment, single copy probe pBS8-81 S D (Wagner, 1990) q22-qter D8S102 DNA Segment, single copy probe pBS8-83 S D (Wagner, 1990) q22-qter D8S103 DNA Segment, single copy probe pBS8-84 S D (Wagner, 1990) q22-qter D8S109 DNA Segment, single copy probe pBS8-121 S D (Wagner, 1990) q22-qter D8S112 DNA Segment, single copy probe pBS8-125 S D (Wagner, 1990) q22-qter D8S114 DNA Segment, single copy probe pBS8-129 S D (Wagner, 1990) q22-qter D8S121 DNA Segment, single copy probe pBS8-147 S D (Wagner, 1990) q22-qter D8S123 DNA Segment, single copy probe pBS8-151 S D (Wagner, 1990) q22-qter D8S92 DNA Segment, single copy probe pL8-37 S D (Wagner, 1990) q22-qter D8S99 DNA Segment, single copy probe pBS8-68 S D (Wagner, 1990) Locus …”

Section: Physical M Apping Studies -Pfge Analysis Long Range Mappingmentioning

confidence: 99%

Report of the committee on the genetic constitution of chromosome 8

Donis-Keller¹,

Buckle²

1990

Cytogenet Genome Res

View full text Add to dashboard Cite

Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.

Cited by 41 publications

References 41 publications

Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes.

Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes.

Human muscle carbonic anhydrase: gene structure and DNA methylation patterns in fetal and adult tissues.

Report of the committee on the genetic constitution of chromosome 8

Contact Info

Product

Resources

About