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PMID: 11687796 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

Nature genetics ·Vol. 29 ·No. 3 ·2001-11-00 ·Pages 279-86

Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC

Abstract

Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most common known cause of spermatogenic failure. We determined the complete nucleotide sequence of AZFc by identifying and distinguishing between near-identical amplicons (massive repeat units) using an iterative mapping-sequencing process. A complex of three palindromes, the largest spanning 3 Mb with 99.97% identity between its arms, encompasses the AZFc region. The palindromes are constructed from six distinct families of amplicons, with unit lengths of 115-678 kb, and may have resulted from tandem duplication and inversion during primate evolution. The palindromic complex contains 11 families of transcription units, all expressed in testis. Deletions of AZFc that cause infertility are remarkably uniform, spanning a 3.5-Mb segment and bounded by 229-kb direct repeats that probably served as substrates for homologous recombination.

MeSH Terms

Base Sequence Chromosome Deletion Chromosome Inversion Chromosomes, Human, Pair 3/genetics Deleted in Azoospermia 1 Protein Evolution, Molecular Gene Duplication Humans Infertility, Male/genetics Male Models, Genetic Molecular Sequence Data Oligospermia/genetics Organ Specificity Physical Chromosome Mapping RNA-Binding Proteins/genetics Recombination, Genetic/genetics Sequence Analysis, DNA Sequence Deletion/genetics Sequence Homology, Nucleic Acid Spermatozoa/metabolism Tandem Repeat Sequences/genetics Testis/metabolism Transcription, Genetic/genetics Y Chromosome/genetics

Chemicals

DAZ1 protein, human Deleted in Azoospermia 1 Protein RNA-Binding Proteins

Authors & Affiliations

11 authors, click to expand affiliations / ORCID

Kuroda-Kawaguchi T

Howard Hughes Medical Institute, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA.

Skaletsky H

Brown L G

Minx P J

Cordum H S

Waterston R H

Wilson R K

Silber S

Oates R

Rozen S

Page D C

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng757

Published

2001-11-00

Pages

279-86

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

AC010139, AC010724, AC010725, AC010727, AC011295, AC015973, AF332228, AF332229, AF332230, AF332231, AF332236, AF332237, AF334526, AF334546, G34986, G38343, G38345, G38349, G63909, G67162, G67163, G67164, G67165, G67166, G67167, G67168, G67169, G67170, G67171, G67175

Corrections

CommentIn

PMID: 11687786

External Links

PubMed source DOI: 10.1038/ng757 View journal details

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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

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