Abstract
The Sox gene family encodes an important group of transcription factors harboring the conserved high-mobility group (HMG) box originally identified in the mouse and human testis determining gene Sry. We have cloned and sequenced SOX6, a member of the human Sox gene family. SOX6 cDNAs isolated from a human myoblast cDNA library show 94.3% amino acid identity to mouse Sox6 throughout the gene, and 100% identity in the critical HMG box and coiled-coil domains. The human SOX6 gene was localized to chromosome 11p15.2-11p15.3 in a region of shared synteny with distal mouse chromosome 7. An analysis of the genomic structure of the human SOX6 gene revealed 16 exons. We identified three SOX6 cDNAs that are generated by alternative splicing. Northern blot analysis revealed that SOX6 is expressed in a wide variety of tissues, most abundantly in skeletal muscle, suggesting an important role for SOX6 in muscle. Mice homozygous for a null mutation of Sox6 (p100H) die suddenly within the first 2 weeks after birth, most likely from cardiac conduction defects (Hagiwara et al., 2000). Thus, there is a possibility that human SOX6 is similarly involved in an, as yet, unidentified human cardiac disorder.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 157-164 |
| Number of pages | 8 |
| Journal | Gene |
| Volume | 265 |
| Issue number | 1-2 |
| DOIs | |
| State | Published - Mar 7 2001 |
| Externally published | Yes |
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Keywords
- Cardiomyopathy
- High mobility group box
- Leucine Zipper
- Skeletal muscle
- SRY
ASJC Scopus subject areas
- Genetics
Cite this
Cloning, characterization and chromosome mapping of the human SOX6 gene. / Cohen-Barak, Orit; Hagiwara, Nobuko; Arlt, Martin F.; Horton, James P.; Brilliant, Murray H.
In: Gene, Vol. 265, No. 1-2, 07.03.2001, p. 157-164.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cloning, characterization and chromosome mapping of the human SOX6 gene
AU - Cohen-Barak, Orit
AU - Hagiwara, Nobuko
AU - Arlt, Martin F.
AU - Horton, James P.
AU - Brilliant, Murray H.
PY - 2001/3/7
Y1 - 2001/3/7
N2 - The Sox gene family encodes an important group of transcription factors harboring the conserved high-mobility group (HMG) box originally identified in the mouse and human testis determining gene Sry. We have cloned and sequenced SOX6, a member of the human Sox gene family. SOX6 cDNAs isolated from a human myoblast cDNA library show 94.3% amino acid identity to mouse Sox6 throughout the gene, and 100% identity in the critical HMG box and coiled-coil domains. The human SOX6 gene was localized to chromosome 11p15.2-11p15.3 in a region of shared synteny with distal mouse chromosome 7. An analysis of the genomic structure of the human SOX6 gene revealed 16 exons. We identified three SOX6 cDNAs that are generated by alternative splicing. Northern blot analysis revealed that SOX6 is expressed in a wide variety of tissues, most abundantly in skeletal muscle, suggesting an important role for SOX6 in muscle. Mice homozygous for a null mutation of Sox6 (p100H) die suddenly within the first 2 weeks after birth, most likely from cardiac conduction defects (Hagiwara et al., 2000). Thus, there is a possibility that human SOX6 is similarly involved in an, as yet, unidentified human cardiac disorder.
AB - The Sox gene family encodes an important group of transcription factors harboring the conserved high-mobility group (HMG) box originally identified in the mouse and human testis determining gene Sry. We have cloned and sequenced SOX6, a member of the human Sox gene family. SOX6 cDNAs isolated from a human myoblast cDNA library show 94.3% amino acid identity to mouse Sox6 throughout the gene, and 100% identity in the critical HMG box and coiled-coil domains. The human SOX6 gene was localized to chromosome 11p15.2-11p15.3 in a region of shared synteny with distal mouse chromosome 7. An analysis of the genomic structure of the human SOX6 gene revealed 16 exons. We identified three SOX6 cDNAs that are generated by alternative splicing. Northern blot analysis revealed that SOX6 is expressed in a wide variety of tissues, most abundantly in skeletal muscle, suggesting an important role for SOX6 in muscle. Mice homozygous for a null mutation of Sox6 (p100H) die suddenly within the first 2 weeks after birth, most likely from cardiac conduction defects (Hagiwara et al., 2000). Thus, there is a possibility that human SOX6 is similarly involved in an, as yet, unidentified human cardiac disorder.
KW - Cardiomyopathy
KW - High mobility group box
KW - Leucine Zipper
KW - Skeletal muscle
KW - SRY
UR - http://www.scopus.com/inward/record.url?scp=0035819925&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035819925&partnerID=8YFLogxK
U2 - 10.1016/S0378-1119(01)00346-8
DO - 10.1016/S0378-1119(01)00346-8
M3 - Article
VL - 265
SP - 157
EP - 164
JO - Gene
JF - Gene
SN - 0378-1119
IS - 1-2
ER -