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PMID: 10587586 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11.

Human molecular genetics ·Vol. 9 ·No. 1 ·2000-01-01 ·Pages 113-23

Horvath JE, Viggiano L, Loftus BJ, Adams MD, Archidiacono N, Rocchi M, Eichler EE

Abstract

We have determined the detailed molecular structure and evolution of an alpha satellite junction from human chromosome 16p11. The analysis reveals that the alpha satellite sequence bordering the transition lacks higher-order structure and that the non-alpha satellite portion consists of a mosaic of duplicated segments of complex evolutionary origin. The 16p11 junction was formed recently (5-10 million years ago) by the duplication and transposition of genomic segments from Xq28 and 4q24. Once this mosaic structure was formed, a larger complex was spread among multiple pericentromeric regions. This resulted in the formation of large (>62 kb) paralogous segments that share a high degree ( approximately 97%) of sequence similarity. Both phylogenetic and comparative analyses indicate that these pericentromeric-directed duplications occurred around the time of the divergence of the human, gorilla and chimpanzee lineages, resulting in the subtle restructuring of the primate genome among these species. The available data suggest that such chimeric structures are a general property of several different human chromosomes near their alpha satellite junctions.

MeSH Terms

Animals Base Sequence Centromere/genetics Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 4 DNA, Satellite Evolution, Molecular Gene Duplication Genetic Variation Hominidae/genetics Humans Molecular Sequence Data Sequence Analysis, DNA Sequence Homology, Nucleic Acid X Chromosome

Chemicals

DNA, Satellite

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Horvath J E

Department of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA.

Viggiano L

Loftus B J

Adams M D

Archidiacono N

Rocchi M

Eichler E E

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/9.1.113

Published

2000-01-01

Pages

113-23

Language

English

Region

England

NLM ID

9208958

Subset

Grants

Telethon · E.0672 · Italy

Telethon · E.0962 · Italy

NIGMS NIH HHS · GM58815-01 · United States

Databases

GENBANK

AC002038, AC002307, AF182004, AF182005, AF182006, AF182007, AF182008, AF182009, AF182010, AF183323, AF183324, AF183325, AF183326, AF183327, AF183328, AF183329, AF183330, AF183331, AF183332, AF183333, AF183334, AF183335, AF183336, AF183337, AF183338, AF183339, AF183340, AF183341, AF183342, AF183343

External Links

PubMed source DOI: 10.1093/hmg/9.1.113 View journal details

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Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11.

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