A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3

Kazunori Shibuya, Izumi Obayashi, Shuichi Asakawa, Shinsei Minoshima, Jun Kudo, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Recently, we identified multiple unique sequences in the 21q22.3 region and predicted them to be a cluster of genes encoding hair-specific keratin-associated proteins (KAPs). Detailed computer-aided analysis of these clustered genes revealed that the cluster spans over 165 kb and consists of 21 KAP-related sequences including 16 putative genes and 5 pseudogenes. These were further divided into two subfamilies, KRTAP12 (KRTAP12.1-12.4 and KRTAP12.5P) and KRTAP18 (KRTAP18.1-18.12 and KRTAP18.13P-18.16P). All 16 putative genes possess several intragenic repeat sequences and apparently belong to the high-sulfur KAP gene family (16-30% cysteine content) known for nonhuman mammalian species. Transcripts were detected by RT-PCR analysis for all 16 putative KAP genes and their expression was restricted to hair root cells (radix pili cells) and not found in 28 other tissues, including skin. All 16 KAP genes produced unspliced transcripts, indicating their nature to be that of active intronless genes. Interestingly, all these KAP-related genes are located within introns of the recently identified gene TSPEAR (approved gene symbol C21orf29), 214 kb in size. Surprisingly, the transcriptional direction of 8 of the 16 active genes is the same as that of C21orf29/TSPEAR. This finding suggests a novel transcription mechanism in which C21orf29/TSPEAR gene transcription passes over the multiple transcriptional termination sites of the KAP genes.

Original languageEnglish
Pages (from-to)679-693
Number of pages15
JournalGenomics
Volume83
Issue number4
DOIs
Publication statusPublished - 2004 Apr

Fingerprint

Human Chromosomes
Keratins
Introns
Genes
Multigene Family
Hair-Specific Keratins
Pseudogenes
Sulfur
Hair
Cysteine
Gene Expression
Polymerase Chain Reaction
Skin

Keywords

  • Chromosome 21
  • Gene cluster
  • Keratin-associated protein

ASJC Scopus subject areas

  • Genetics

Cite this

A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. / Shibuya, Kazunori; Obayashi, Izumi; Asakawa, Shuichi; Minoshima, Shinsei; Kudo, Jun; Shimizu, Nobuyoshi.

In: Genomics, Vol. 83, No. 4, 04.2004, p. 679-693.

Research output: Contribution to journalArticle

Shibuya, Kazunori ; Obayashi, Izumi ; Asakawa, Shuichi ; Minoshima, Shinsei ; Kudo, Jun ; Shimizu, Nobuyoshi. / A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. In: Genomics. 2004 ; Vol. 83, No. 4. pp. 679-693.
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AB - Recently, we identified multiple unique sequences in the 21q22.3 region and predicted them to be a cluster of genes encoding hair-specific keratin-associated proteins (KAPs). Detailed computer-aided analysis of these clustered genes revealed that the cluster spans over 165 kb and consists of 21 KAP-related sequences including 16 putative genes and 5 pseudogenes. These were further divided into two subfamilies, KRTAP12 (KRTAP12.1-12.4 and KRTAP12.5P) and KRTAP18 (KRTAP18.1-18.12 and KRTAP18.13P-18.16P). All 16 putative genes possess several intragenic repeat sequences and apparently belong to the high-sulfur KAP gene family (16-30% cysteine content) known for nonhuman mammalian species. Transcripts were detected by RT-PCR analysis for all 16 putative KAP genes and their expression was restricted to hair root cells (radix pili cells) and not found in 28 other tissues, including skin. All 16 KAP genes produced unspliced transcripts, indicating their nature to be that of active intronless genes. Interestingly, all these KAP-related genes are located within introns of the recently identified gene TSPEAR (approved gene symbol C21orf29), 214 kb in size. Surprisingly, the transcriptional direction of 8 of the 16 active genes is the same as that of C21orf29/TSPEAR. This finding suggests a novel transcription mechanism in which C21orf29/TSPEAR gene transcription passes over the multiple transcriptional termination sites of the KAP genes.

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