Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis

Mol Hum Reprod. 2006 Nov;12(11):703-16. doi: 10.1093/molehr/gal079. Epub 2006 Sep 29.

Abstract

Human sperm protein associated with the nucleus on the X chromosome consists of a five-member gene family (SPANXA1, SPANXA2, SPANXB, SPANXC and SPANXD) clustered at Xq27.1. Evolved from an ancestral SPANX-N gene family (at Xq27 and Xp11) present in all primates as well as in rats and mice, the SPANXA/D family is present only in humans, bonobos, chimpanzees and gorillas. Among hominoid-specific genes, the SPANXA/D gene family is considered to be undergoing rapid positive selection in its coding region. In this study, RT-PCR of human testis mRNA from individuals showed that, although all SPANXA/D genes are expressed in humans, differences are evident. In particular, SPANXC is expressed only in a subset of men. The SPANXa/d protein localized to the nuclear envelope of round, condensing and elongating spermatids, specifically to regions that do not underlie the developing acrosome. During spermiogenesis, the SPANXa/d-positive domain migrated into the base of the head as the redundant nuclear envelope that protrudes into the residual cytoplasm. Post-testicular modification of the SPANXa/d proteins was noted, as were PEST (proline, glutamic acid, serine, and threonine rich regions) domains. It is concluded that the duplication of the SPANX-N gene family that occurred 6-11 MYA resulted in a new gene family, SPANXA/D, that plays a role during spermiogenesis. The SPANXa/d gene products are among the few examples of X-linked nuclear proteins expressed following meiosis. Their localization to non-acrosomal domains of the nuclear envelope adjacent to regions of euchromatin and their redistribution to the redundant nuclear envelope during spermiogenesis provide a biomarker for the redundant nuclear envelope of spermatids and spermatozoa.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrosome / ultrastructure
  • Amino Acid Motifs
  • Amino Acid Sequence
  • Animals
  • Cell Compartmentation
  • Chromosomes, Human, X / genetics
  • Consensus Sequence
  • Euchromatin / ultrastructure
  • Evolution, Molecular
  • Fluorescent Antibody Technique, Indirect
  • Gene Duplication
  • Gene Expression Regulation, Developmental*
  • Humans
  • Individuality
  • Male
  • Meiosis
  • Microscopy, Electron
  • Molecular Sequence Data
  • Morphogenesis / genetics
  • Neoplasm Proteins / biosynthesis
  • Neoplasm Proteins / genetics*
  • Nuclear Envelope / metabolism*
  • Nuclear Envelope / ultrastructure
  • Nuclear Proteins / biosynthesis
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Pan troglodytes / metabolism*
  • Phylogeny
  • Primates / metabolism
  • Protein Structure, Tertiary
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Species Specificity
  • Spermatids / metabolism*
  • Spermatids / ultrastructure
  • Spermatogenesis / genetics*
  • Transcription, Genetic
  • X Chromosome / genetics

Substances

  • Euchromatin
  • Neoplasm Proteins
  • Nuclear Proteins
  • SPANXA1 protein, human
  • SPANXA2 protein, human
  • SPANXB1 protein, human
  • SPANXC protein, human
  • SPANXD protein, human