Limits...
Monogenic forms of childhood obesity due to mutations in the leptin gene.

Funcke JB, von Schnurbein J, Lennerz B, Lahr G, Debatin KM, Fischer-Posovszky P, Wabitsch M - Mol Cell Pediatr (2014)

Bottom Line: Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene.This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.

View Article: PubMed Central - PubMed

Affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. jan-bernd.funcke@uni-ulm.de.

ABSTRACT
Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.

No MeSH data available.


Related in: MedlinePlus

Overview of human leptin mutants. Mapping of the eight distinct human leptin mutations to the human leptin gene, leptin cDNA, and immature as well as mature leptin protein. Where applicable, the sizes of individual portions are given either in base pairs (bp) or amino acids (aa). For the leptin gene, exons are depicted as filled boxes while introns and flanking regions are depicted as thin lines. The portions of exon 2 and exon 3 that form the open reading frame (ORF) are colored in a darker shade. For the leptin cDNA, the 5′ and the 3′ untranslated region (UTR) are colored in a lighter shade while the ORF is colored in a darker shade. For the immature leptin protein, the signal peptide that gets cleaved off during the maturation process is colored in a darker shade. For the mature leptin protein, the chosen nomenclature is not consistent with the HGVS recommendations. All sequence information is based on [Ensembl:ENSG00000174697, Ensembl:ENST00000308868].
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4644131&req=5

Fig1: Overview of human leptin mutants. Mapping of the eight distinct human leptin mutations to the human leptin gene, leptin cDNA, and immature as well as mature leptin protein. Where applicable, the sizes of individual portions are given either in base pairs (bp) or amino acids (aa). For the leptin gene, exons are depicted as filled boxes while introns and flanking regions are depicted as thin lines. The portions of exon 2 and exon 3 that form the open reading frame (ORF) are colored in a darker shade. For the leptin cDNA, the 5′ and the 3′ untranslated region (UTR) are colored in a lighter shade while the ORF is colored in a darker shade. For the immature leptin protein, the signal peptide that gets cleaved off during the maturation process is colored in a darker shade. For the mature leptin protein, the chosen nomenclature is not consistent with the HGVS recommendations. All sequence information is based on [Ensembl:ENSG00000174697, Ensembl:ENST00000308868].

Mentions: The notation used to describe the position and character of human leptin mutations has been inconsistent up to now [13-23]. Therefore, we provide a consistent notation and overview of the eight distinct leptin mutations described in humans so far (Figure 1) mapped to the human leptin gene, transcribed leptin mRNA (here cDNA), and translated immature and processed mature leptin protein. In the text of this review, the given position of amino acids in the leptin protein uniformly refers to their position in the unprocessed, immature protein. Moreover, we have summarized information about the eight known leptin mutations in humans, including the number of patients reported to carry these mutations (Table 1). Unless otherwise indicated, the chosen nomenclature adheres to the recommendations of the Human Genome Variation Society (HGVS).Figure 1


Monogenic forms of childhood obesity due to mutations in the leptin gene.

Funcke JB, von Schnurbein J, Lennerz B, Lahr G, Debatin KM, Fischer-Posovszky P, Wabitsch M - Mol Cell Pediatr (2014)

Overview of human leptin mutants. Mapping of the eight distinct human leptin mutations to the human leptin gene, leptin cDNA, and immature as well as mature leptin protein. Where applicable, the sizes of individual portions are given either in base pairs (bp) or amino acids (aa). For the leptin gene, exons are depicted as filled boxes while introns and flanking regions are depicted as thin lines. The portions of exon 2 and exon 3 that form the open reading frame (ORF) are colored in a darker shade. For the leptin cDNA, the 5′ and the 3′ untranslated region (UTR) are colored in a lighter shade while the ORF is colored in a darker shade. For the immature leptin protein, the signal peptide that gets cleaved off during the maturation process is colored in a darker shade. For the mature leptin protein, the chosen nomenclature is not consistent with the HGVS recommendations. All sequence information is based on [Ensembl:ENSG00000174697, Ensembl:ENST00000308868].
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4644131&req=5

Fig1: Overview of human leptin mutants. Mapping of the eight distinct human leptin mutations to the human leptin gene, leptin cDNA, and immature as well as mature leptin protein. Where applicable, the sizes of individual portions are given either in base pairs (bp) or amino acids (aa). For the leptin gene, exons are depicted as filled boxes while introns and flanking regions are depicted as thin lines. The portions of exon 2 and exon 3 that form the open reading frame (ORF) are colored in a darker shade. For the leptin cDNA, the 5′ and the 3′ untranslated region (UTR) are colored in a lighter shade while the ORF is colored in a darker shade. For the immature leptin protein, the signal peptide that gets cleaved off during the maturation process is colored in a darker shade. For the mature leptin protein, the chosen nomenclature is not consistent with the HGVS recommendations. All sequence information is based on [Ensembl:ENSG00000174697, Ensembl:ENST00000308868].
Mentions: The notation used to describe the position and character of human leptin mutations has been inconsistent up to now [13-23]. Therefore, we provide a consistent notation and overview of the eight distinct leptin mutations described in humans so far (Figure 1) mapped to the human leptin gene, transcribed leptin mRNA (here cDNA), and translated immature and processed mature leptin protein. In the text of this review, the given position of amino acids in the leptin protein uniformly refers to their position in the unprocessed, immature protein. Moreover, we have summarized information about the eight known leptin mutations in humans, including the number of patients reported to carry these mutations (Table 1). Unless otherwise indicated, the chosen nomenclature adheres to the recommendations of the Human Genome Variation Society (HGVS).Figure 1

Bottom Line: Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene.This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.

View Article: PubMed Central - PubMed

Affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, 89075, Germany. jan-bernd.funcke@uni-ulm.de.

ABSTRACT
Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.

No MeSH data available.


Related in: MedlinePlus