Summary
Connexin43 is one of connexin proteins which make up the intercellular gap junctions. Targeted null mutation of the mouse connexin43 gene has been reported to result in a cardiac malformation. Moreover, single-base mutations of the human homolog (GJA1) were identified in patients with laterality defects of the chest and abdominal organs, suggesting that connexin43 contributes to the determination of laterality during organogenesis. We mappedGJA1 to 6q22.3 by fluorescencein situ hybridization, using a bacterial artificial chromosome (BAC) clone that covered almost the entireGJA1-cDNA, as a probe.
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Beyer ED, Paul D, Goodenough DA (1988): The connexins, a family of related gap junction proteins. In: Hertzberg EL, Johnson RG (eds). Gap junctions. A.R. Liss, New York, pp 167–175
Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH (1995): Mutations of theconnexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med332: 1323–1329
Casey B, Ballabio A (1995):Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med333: 941
Corcos IA, Meese EU, Loch-Caruso R (1993): Human connexin43 gene locus,GJA1, sublocalized to band 6q21–q23.2. Cytogenet Cell Genet64: 31–32
Dutrillaux B, Viegas-Pequignot E (1981): High resolution R- and G-banding on the same preparation. Hum Genet57: 93–95
Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA (1991): The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics10: 250–256
Goshima K (1971): Synchronized beating of myocardial cells mediated by FL cells in monolayer culture and its inhibition by trypsin-treated FL cells. Exp Cell Res65: 161–169
Hsieh C-L, Kumar NM, Gilula NB, Francke U (1991): Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Somatic Cell Mol Genet17: 191–200
Kato R, Yamada Y, Niikawa N (1996):De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia. Am J Med Genet66: 184–186
Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N (1993): The origin of cytogenetically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum Genet92: 1–5
Penman Splitt M, Burn J, Goodship J (1995):Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med333: 941
Reaume AG, de Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J (1995): Cardiac malformation in neonatal mice lacking connexin43. Science267: 1831–1834
Willecke K, Jungbluth S, Dahl E, Hennemann H, Heynkes R, Grzeschik K-H (1990): Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol53: 275–280
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Kato, R., Matsumoto, N. & Niikawa, N. Assignment of the human connexin43 gene,GJA1, to chromosome 6q22.3. Jap J Human Genet 42, 213–216 (1997). https://doi.org/10.1007/BF02766924
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DOI: https://doi.org/10.1007/BF02766924
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Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia
The Japanese Journal of Human Genetics (1997)