(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.) > cellular organisms: NE > Eukaryota: NE > Opisthokonta: NE > Metazoa: NE > Eumetazoa: NE > Bilateria: NE > Deuterostomia: NE > Chordata: NE > Craniata: NE > Vertebrata: NE > Gnathostomata: NE > Teleostomi: NE > Euteleostomi: NE > Sarcopterygii: NE > Dipnotetrapodomorpha: NE > Tetrapoda: NE > Amniota: NE > Mammalia: NE > Theria: NE > Eutheria: NE > Boreoeutheria: NE > Euarchontoglires: NE > Glires: NE > Lagomorpha: NE > Leporidae: NE > Oryctolagus: NE > Oryctolagus cuniculus: NE
LegendThis sequence has been compared to family alignement (MSA) red => minority aminoacid blue => majority aminoacid color intensity => conservation rate title => sequence position(MSA position)aminoacid rate Catalytic site Catalytic site in the MSA MLRFYLFISLLCLVRSDTDETCPSFTKLSFHSAVVGTELNVRLLLYTRKN YTCAQIINSTTFGNLNVTKKTTFVVHGFRPTGSPPVWLQDLVKALLMVED MNLVVVDWNRGATTVIYTQASNKTRKVAIILKEFIDQMLARGASLDDIYM IGVSLGAHISGFVGKMYNGQLGRITGLDPAGPLFNGKPPQDRLDPSDAQF VDVIHSDTDALGYKEPLGNIDFYPNGGVDQPGCPKTIFEAGMQYFKCDHQ MSVYLYLSSLRKNCTITAYPCDSYRDYRNGKCINCGLPQGKPCPLLGYYA DNWKDYLSEKDPPMTKAFFDTAEKEPYCMYHYFVDIITWNKSIRRGSITI KLKDEAGNTTESKINHEPVTFEKYHQVSLLARFNQDLDKVAEISLVFSTG AVIGPKYKLRILRMKLRSLAHPERPQLCRYDLVLTENVETPFQPIVCQKL QM
Natural mutations in the LIPH gene were shown to be responsible for hair growth defects in humans and for the rex short hair phenotype in rabbits. In this species, we identified a single nucleotide deletion in LIPH (1362delA) introducing a stop codon in the C-terminal region of the protein. We investigated the expression of LIPH between normal coat and rex rabbits during critical fetal stages of hair follicle genesis, in adults and during hair follicle cycles. Transcripts were three times less expressed in both fetal and adult stages of the rex rabbits than in normal rabbits. In addition, the hair growth cycle phases affected the regulation of the transcription level in the normal and mutant phenotypes differently. LIPH mRNA and protein levels were higher in the outer root sheath (ORS) than in the inner root sheath (IRS), with a very weak signal in the IRS of rex rabbits. In vitro transfection shows that the mutant protein has a reduced lipase activity compared to the wild type form. Our results contribute to the characterization of the LIPH mode of action and confirm the crucial role of LIPH in hair production.
The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the "r1" mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits.
Title: mRNA encoding a new lipolytic enzyme expressed in rabbit lacrimal glands Remington SG, Nelson JD Ref: Invest Ophthalmol Vis Sci, 43:3617, 2002 : PubMed
PURPOSE: In previous work, lacrimal glands of female mice were shown to express an mRNA encoding pancreatic lipase-related protein 1 (PLRP1), a member of the triacylglycerol lipase family. To investigate the hypothesis that lacrimal glands express mRNAs encoding other lipolytic enzymes, the present study was conducted to look for triacylglycerol lipase-related mRNAs in the lacrimal glands of rabbits. METHODS: Degenerate polymerase chain reaction (PCR) primers were designed based on two conserved amino acid motifs, RITGLD, and DI/(F)Y/(F)PNGG, in the triacylglycerol lipase family. Lacrimal gland cDNAs were amplified, and the expected 200-bp products were subcloned and sequenced. One product encoded a new lipase-related sequence, which was termed lacrimal lipase (LL). The complete cDNA sequence of rabbit LL was determined, and labeled LL cDNA was used to probe RNA blots of several rabbit tissues and a genomic DNA blot. RESULTS: BLAST database searches indicated that the predicted amino acid sequence of LL is related to phosphatidylserine phospholipase A(1) (PS-PLA1) and to members of the triacylglycerol lipase family. Labeled LL cDNA hybridized to a 2.1-kb message in RNA blots of rabbit lacrimal gland, harderian gland, heart, liver, and pancreas. These blots demonstrated no gender-based differential expression in rabbit lacrimal or harderian glands. Hybridization of labeled LL cDNA to a genomic DNA blot suggested that LL was a single-copy gene. CONCLUSIONS: Male and female rabbit lacrimal glands expressed an mRNA encoding LL, a new predicted member of the triacylglycerol lipase family.
Natural mutations in the LIPH gene were shown to be responsible for hair growth defects in humans and for the rex short hair phenotype in rabbits. In this species, we identified a single nucleotide deletion in LIPH (1362delA) introducing a stop codon in the C-terminal region of the protein. We investigated the expression of LIPH between normal coat and rex rabbits during critical fetal stages of hair follicle genesis, in adults and during hair follicle cycles. Transcripts were three times less expressed in both fetal and adult stages of the rex rabbits than in normal rabbits. In addition, the hair growth cycle phases affected the regulation of the transcription level in the normal and mutant phenotypes differently. LIPH mRNA and protein levels were higher in the outer root sheath (ORS) than in the inner root sheath (IRS), with a very weak signal in the IRS of rex rabbits. In vitro transfection shows that the mutant protein has a reduced lipase activity compared to the wild type form. Our results contribute to the characterization of the LIPH mode of action and confirm the crucial role of LIPH in hair production.
The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the "r1" mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits.
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering approximately 4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for approximately 60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.
Title: mRNA encoding a new lipolytic enzyme expressed in rabbit lacrimal glands Remington SG, Nelson JD Ref: Invest Ophthalmol Vis Sci, 43:3617, 2002 : PubMed
PURPOSE: In previous work, lacrimal glands of female mice were shown to express an mRNA encoding pancreatic lipase-related protein 1 (PLRP1), a member of the triacylglycerol lipase family. To investigate the hypothesis that lacrimal glands express mRNAs encoding other lipolytic enzymes, the present study was conducted to look for triacylglycerol lipase-related mRNAs in the lacrimal glands of rabbits. METHODS: Degenerate polymerase chain reaction (PCR) primers were designed based on two conserved amino acid motifs, RITGLD, and DI/(F)Y/(F)PNGG, in the triacylglycerol lipase family. Lacrimal gland cDNAs were amplified, and the expected 200-bp products were subcloned and sequenced. One product encoded a new lipase-related sequence, which was termed lacrimal lipase (LL). The complete cDNA sequence of rabbit LL was determined, and labeled LL cDNA was used to probe RNA blots of several rabbit tissues and a genomic DNA blot. RESULTS: BLAST database searches indicated that the predicted amino acid sequence of LL is related to phosphatidylserine phospholipase A(1) (PS-PLA1) and to members of the triacylglycerol lipase family. Labeled LL cDNA hybridized to a 2.1-kb message in RNA blots of rabbit lacrimal gland, harderian gland, heart, liver, and pancreas. These blots demonstrated no gender-based differential expression in rabbit lacrimal or harderian glands. Hybridization of labeled LL cDNA to a genomic DNA blot suggested that LL was a single-copy gene. CONCLUSIONS: Male and female rabbit lacrimal glands expressed an mRNA encoding LL, a new predicted member of the triacylglycerol lipase family.
Oryctolagus cuniculus protein for liver 60 kD carboxylesterase 1