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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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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
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Journal Article
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
2001
Overview
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Chromosomes, Human, Pair 3 - genetics
/ Classical genetics, quantitative genetics, hybrids
/ Complications and side effects
/ Deleted in Azoospermia 1 Protein
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Human
/ Humans
/ Infertility, Male - genetics
/ Male
/ Molecular and cellular biology
/ Primates
/ Recombination, Genetic - genetics
/ RNA-Binding Proteins - genetics
/ Sequence Deletion - genetics
/ Sequence Homology, Nucleic Acid
/ Sperm
/ Tandem Repeat Sequences - genetics
