Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P)

William A. Paznekas, Kazuki Okajima, Michael Schertzer, Stephen Wood, Ethylin Wang Jabs

Research output: Contribution to journalArticle

Abstract

Some of the zinc finger proteins of the snail family are essential in the formation of mesoderm during gastrulation and the development of neural crest and its derivatives. We have isolated the human SNAIL gene (HGMW- approved symbol SNAI1) and describe its genomic organization, having sequenced a region spanning more than 5882 bp. The human SNAIL gene contains three exons. The SNAIL transcript is 2.0 kb and is found in placenta and adult heart, lung, brain, liver, and skeletal muscle. It codes for a protein of 264 amino acids and 29.1 kDa. This protein contains three classic zinc fingers and one atypical zinc finger. The human SNAIL protein is 87.5, 58.7, 50.9, 50.7, 55.4, and 31.5% identical to mouse Snail, chicken snail-like, zebrafish snail1, zebrafish snail2, Xenopus snail, and Drosophila snail proteins, respectively. The zinc finger region is 95.5% identical between human and mouse Snail. Because Drosophila snail and twist are important regulators during mesoderm development and because human TWIST mutations have been implicated in craniosynostosis, a cohort of 59 patients with craniosynostosis syndromes were screened for SNAIL mutations. None were found. By somatic cell and radiation hybrid mapping panels, SNAIL was localized to human chromosome 20q13.2, between markers D20S886 and D20S109. A SNAIL-related, putative processed pseudogene (HGMW-approved symbol SNAI1P) was also isolated and maps to human chromosome 2q33-q37.

Original languageEnglish (US)
Pages (from-to)42-49
Number of pages8
JournalGenomics
Volume62
Issue number1
DOIs
StatePublished - Nov 15 1999

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Pseudogenes
Zinc Fingers
Snails
Human Chromosomes
Craniosynostoses
Mesoderm
Zebrafish
Genes
Proteins
Radiation Hybrid Mapping
Gastrulation
Mutation
Hybrid Cells
Neural Crest
Human Development
Xenopus
Placenta
Drosophila
Chickens
Exons

ASJC Scopus subject areas

  • Genetics

Cite this

Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). / Paznekas, William A.; Okajima, Kazuki; Schertzer, Michael; Wood, Stephen; Jabs, Ethylin Wang.

In: Genomics, Vol. 62, No. 1, 15.11.1999, p. 42-49.

Research output: Contribution to journalArticle

Paznekas, William A. ; Okajima, Kazuki ; Schertzer, Michael ; Wood, Stephen ; Jabs, Ethylin Wang. / Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). In: Genomics. 1999 ; Vol. 62, No. 1. pp. 42-49.
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