TY - JOUR
T1 - Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster
AU - Chakravarti, A.
AU - Phillips, J. A.
AU - Mellits, K. H.
AU - Buetow, K. H.
AU - Seeburg, P. H.
PY - 1984
Y1 - 1984
N2 - Six restriction fragment length polymorphisms (RFLPs) detected in the human growth hormone-human chorionic somatomammotropin (hGH-hCS) gene cluster were studied in Mediterraneans, Northern Europeans, and American Blacks; the polymorphisms showed that, on the average, 1 of 500 bases in this cluster is variant. Haplotypes constructed for 4 of these RFLPs display strong nonrandom associations. However, the strongest associations were between RFLPs that are in homologous DNAs rather than between the physically closest RFLPs. From this and other evidence we argue that duplication of an ancestral hCS gene occurred at least twice, the second event being relatively recent. In other words, duplication of the hCS-L gene to produce the hCS-A gene occurred twice, so that hCS-A genes in humans may have independent origins. Our results imply that chromosomes with absent hCS genes (leading to hCS deficiency) may represent the nonduplicated ancestral unit rather than gene deletions.
AB - Six restriction fragment length polymorphisms (RFLPs) detected in the human growth hormone-human chorionic somatomammotropin (hGH-hCS) gene cluster were studied in Mediterraneans, Northern Europeans, and American Blacks; the polymorphisms showed that, on the average, 1 of 500 bases in this cluster is variant. Haplotypes constructed for 4 of these RFLPs display strong nonrandom associations. However, the strongest associations were between RFLPs that are in homologous DNAs rather than between the physically closest RFLPs. From this and other evidence we argue that duplication of an ancestral hCS gene occurred at least twice, the second event being relatively recent. In other words, duplication of the hCS-L gene to produce the hCS-A gene occurred twice, so that hCS-A genes in humans may have independent origins. Our results imply that chromosomes with absent hCS genes (leading to hCS deficiency) may represent the nonduplicated ancestral unit rather than gene deletions.
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U2 - 10.1073/pnas.81.19.6085
DO - 10.1073/pnas.81.19.6085
M3 - Article
C2 - 6091133
AN - SCOPUS:3043005733
SN - 0027-8424
VL - 81
SP - 6085
EP - 6089
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 19 I
ER -