Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster

A. Chakravarti, J. A. Phillips, K. H. Mellits, K. H. Buetow, P. H. Seeburg

Research output: Contribution to journalArticlepeer-review

74 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)6085-6089
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume81
Issue number19 I
DOIs
StatePublished - 1984
Externally publishedYes

ASJC Scopus subject areas

  • General

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