Cloning, chromosomal mapping, and expression of the human eHAND gene

Russell, Mark W.; Baker, Priscilla J.; Izumo, S

doi:10.1007/s003359900596

Cited by 13 publications

(7 citation statements)

References 12 publications

(12 reference statements)

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“…Among those tested, only the RNA samples isolated from heart hybridized with a human HAND-1 cDNA probe. This result is in accord with published data that show Hand-1 is expressed in both the murine [Cross et al, 1995;Srivastava et al, 1995] and human [Russell et al, 1997] adult heart. No hybridization to RNA samples isolated from either placental villi or cytotrophoblast columns was detected.…”

Section: Differentiating/invading Cytotrophoblasts Express the Human supporting

confidence: 96%

A repertoire of differentially expressed transcription factors that offers insight into mechanisms of human cytotrophoblast differentiation

et al. 1999

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Section: Differentiating/invading Cytotrophoblasts Express the Human supporting

confidence: 96%

A repertoire of differentially expressed transcription factors that offers insight into mechanisms of human cytotrophoblast differentiation

et al. 1999

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“…Angelo et al 2000;Cross et al 1995;Hollenberg et al 1995;Natarajan et al 2001;Russell et al 1997Russell et al , 1998Smith et al 2000;Sparrow et al 1998;Srivastava et al 1995). Phylogenetic analysis placed the fish Hand into the same branch as the dHand proteins, suggesting that dHand might represent the ancestral form.…”

Section: Cloning Of Drosophila Handmentioning

confidence: 93%

“…A prominent member of the vertebrate bHLH protein superfamily is the Hand protein which is involved in various developmental processes including cardiogenesis, branchial arch development, limb bud development, neuronal differentiation and trophoblast development. Humans and higher vertebrates have two related hand genes, dHand (Hand2, Hed, Thing2) and eHand (Hand1, Hxt, Thing1), whereas only a single hand gene was found in fish (Angelo et al 2000;Charité et al 2000;Cross et al 1995;Fernandez-Teran et al 2000;Firulli et al 1998;Hollenberg et al 1995;Howard et al 1999;Knöfler et al 1998;Riley et al 1998;Russell et al 1997Russell et al , 1998Sparrow et al 1998;Srivastava et al 1995Srivastava et al , 1997Tanaka et al 2002;Thomas et al 1998;Yamagishi et al 2000, Edited by D. Tautz Electronic Supplementary Material is available if you access this article at http://dx.doi.org/10.1007/s00427-002-0268-6. On that page (frame on the left side), a link takes you directly to the supplementary material V. Kölsch · A. Paululat ( ✉ ) 2001; Yelon et al 2000).…”

Section: Introductionmentioning

confidence: 97%

The highly conserved cardiogenic bHLH factor Hand is specifically expressed in circular visceral muscle progenitor cells and in all cell types of the dorsal vessel during Drosophila embryogenesis

Kölsch

Paululat

2002

Development Genes and Evolution

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The highly conserved basic helix-loop-helix transcription factor Hand plays a crucial role in cardiogenesis, limb formation and other developmental processes of vertebrates. Humans, mice and other higher vertebrates have two related genes, dHand (also known as Hand2, Hed, Thing2) and eHand (also known as Hand1, Hxt, Thing1), whereas fish and Drosophila have only a single hand gene. We cloned Drosophila hand and studied the embryonic expression in detail by using various tissue-specific markers that allowed us to analyze the identity of hand-expressing cells. We found hand to be expressed in the entire heart, including all cardioblasts and pericardial cells, in the progenitors of the circular visceral muscles, the lymph gland and garland cells, and in a few cells in the CNS. The expression of Drosophila hand starts after the inductive activity of the early regulators in these tissues, e.g. Tinman and Bagpipe, suggesting a role of Hand in differentiation rather than in tissue determination. In many aspects the expression pattern of Drosophila hand resembles the patterns of its vertebrates orthologues, for instance in cardiac tissues. We assume that Hand proteins might play a highly conserved role throughout evolution.

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“…Poly(A) tracts encoded by cryptic trinucleotide repeats occur in a row of further human transcription factors or DNA/RNA binding proteins, e.g. SP4, SOX-3, SOX-4, N-OCT3, OTX1, RDC-1, engrailed-1, HRX, EGR-2, nucleolin, amyloid-like protein 2 (reviewed in Karlin and Burge 1996), MAZ (Bossone et al 1992;Tsutsui et al 1996), HAND1 (Russell et al 1997) and HAND2 (Russell et al 1998). Given this, one should expect a rising number of disease-causing stable poly(A) expansions to be detected in the near future.…”

Section: Bothmentioning

confidence: 99%

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

et al. 2002

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Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication within a cryptic trinucleotide repeat sequence encoding an 18-residue polyalanine tract in the homeoboxgene ( HOX) A13. This mutation expands the stretch with six extra alanine residues. Similar types of mutation (plus eight alanines) have recently been found in another HFGS family and also in the human HOXD13 gene (plus seven up to plus 14 residues) where it leads to synpolydactyly (SPD), a further congenital limb malformation rarely associated with genital abnormalities. As observed in our family, all the expanded tracts encoding polyalanine, either reported for HOXA13 or HOXD13, are quite stable when transmitted within affected families. Unlike disorders with unstable expansions of perfect trinucleotide repeats the molecular mechanism underlying these polyalanine expansions should be unequal crossing-over rather than replication slippage. The alanine tract elongation may prevent protein-protein interactions of the mutant HOXA13, thereby inducing a localized heterochrony in the sequence of distal limb and genitourinary development.

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Cloning, chromosomal mapping, and expression of the human eHAND gene

Cited by 13 publications

References 12 publications

A repertoire of differentially expressed transcription factors that offers insight into mechanisms of human cytotrophoblast differentiation

A repertoire of differentially expressed transcription factors that offers insight into mechanisms of human cytotrophoblast differentiation

The highly conserved cardiogenic bHLH factor Hand is specifically expressed in circular visceral muscle progenitor cells and in all cell types of the dorsal vessel during Drosophila embryogenesis

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

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