Structure and evolution of the gorilla and orangutan growth hormone loci

• Published in: Mammalian genome Vol. 27; no. 9-10; pp. 511 - 523
• Main Authors: Pérez-Maya, Antonio Alí, Wallis, Michael, Barrera-Saldaña, Hugo Alberto
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.10.2016; Springer Nature B.V
• Subjects: Amino Acid Sequence; Animal Genetics and Genomics; Animals; Base Sequence; Biomedical and Life Sciences; Cell Biology; Evolution, Molecular; Gene Conversion; Gene Duplication; Gene Expression; Genetic Loci; Gorilla gorilla - genetics; Gorilla gorilla gorilla; Growth Hormone - genetics; Growth Hormone - metabolism; Human Genetics; Humans; Life Sciences; Male; Pan troglodytes; Phylogeny; Pituitary Gland - metabolism; Pongo - genetics; Pongo abelii; Promoter Regions, Genetic; Pseudogenes; Sequence Analysis, DNA; Growth Hormone Gene; Locus Control Region; Growth Hormone; Pituitary Growth Hormone; Gene Conversion
• ISSN: 0938-8990; 1432-1777
• DOI: 10.1007/s00335-016-9654-7

In primates, the unigenic growth hormone ( GH ) locus of prosimians expressed primarily in the anterior pituitary, evolved by gene duplications, independently in New World Monkeys (NWM) and Old World Monkeys (OWMs)/apes, to give complex clusters of genes expressed in the pituitary and placenta. In human and chimpanzee, the GH locus comprises five genes, GH-N being expressed as pituitary GH, whereas GH-V (placental GH) and CSHs (chorionic somatomammotropins) are expressed (in human and probably chimpanzee) in the placenta; the CSHs comprise CSH-A, CSH-B and the aberrant CSH-L (possibly a pseudogene) in human, and CSH-A1, CSH-A2 and CSH-B in chimpanzee. Here, the GH locus in two additional great apes, gorilla ( Gorilla gorilla gorilla ) and orangutan ( Pongo abelii ), is shown to contain six and four GH -like genes, respectively. The gorilla locus possesses six potentially expressed genes, gGH - N , gGH - V and four gCSHs, whereas the orangutan locus has just three functional genes, oGH - N, oGH - V and oCSH - B , plus a pseudogene, oCSH - L. Analysis of regulatory sequences, including promoter, enhancer and P-elements, shows significant variation; in particular the proximal Pit - 1 element of GH - V genes differs markedly from that of other genes in the cluster. Phylogenetic analysis shows that the initial gene duplication led to distinct GH -like and CSH -like genes and that a second duplication provided separate GH - N and GH - V . However, evolution of the CSH -like genes remains unclear. Rapid adaptive evolution gave rise to the distinct CSHs , after the first duplication, and to GH - V after the second duplication. Analysis of transcriptomic databases derived from gorilla tissues establishes that the gGH - N , gGH - V and several gCSH genes are expressed, but the significance of the many CSH genes in gorilla remains unclear.